Canonical Allele Identifier: CA2640519617

Gene: P4HB

Linked Data

• gnomAD v4: 17-81846849-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81846849C>T , CM000679.2:g.81846849C>T	GRCh38
NC_000017.10:g.79804725C>T , CM000679.1:g.79804725C>T	GRCh37
NC_000017.9:g.77398014C>T	NCBI36
NG_042033.1:g.18820G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000331483.9:c.855+98G>A MANE Select	ENSP00000327801.4:n.855+98G>A
ENST00000415593.6:c.585+98G>A	ENSP00000388117.2:n.585+98G>A
ENST00000439918.7:c.723+98G>A	ENSP00000388374.2:n.723+98G>A
ENST00000466567.3:n.5639+98G>A
ENST00000471535.2:n.809+98G>A
ENST00000472244.6:n.885+98G>A
ENST00000474712.2:n.101+98G>A
ENST00000477607.7:n.1047+98G>A
ENST00000484286.2:n.830G>A
ENST00000570907.6:c.855+98G>A	ENSP00000461362.2:n.855+98G>A
ENST00000571617.2:c.730-220G>A	ENSP00000458300.2:n.730-220G>A
ENST00000573778.7:c.*670+98G>A	ENSP00000460088.3:n.*670+98G>A
ENST00000574007.6:n.1513+98G>A
ENST00000574914.2:c.747+98G>A	ENSP00000460612.2:n.747+98G>A
ENST00000575069.6:c.*670+98G>A	ENSP00000459211.1:n.*670+98G>A
ENST00000576052.2:c.*226+98G>A	ENSP00000461791.2:n.*226+98G>A
ENST00000576380.6:c.*536+98G>A	ENSP00000460285.2:n.*536+98G>A
ENST00000576390.6:c.855+98G>A	ENSP00000461718.2:n.855+98G>A
ENST00000576541.2:c.*714+98G>A	ENSP00000460741.2:n.*714+98G>A
ENST00000679366.1:c.*38+98G>A	ENSP00000506375.1:n.*38+98G>A
ENST00000679396.1:n.982+98G>A
ENST00000679439.1:c.855+98G>A	ENSP00000505377.1:n.855+98G>A
ENST00000679455.1:c.*666+98G>A	ENSP00000505971.1:n.*666+98G>A
ENST00000679470.1:n.1040G>A
ENST00000679628.1:n.1938G>A
ENST00000679688.1:c.*476+98G>A	ENSP00000505272.1:n.*476+98G>A
ENST00000679889.1:c.*38+98G>A	ENSP00000506718.1:n.*38+98G>A
ENST00000680076.1:n.953+98G>A
ENST00000680083.1:c.*589+98G>A	ENSP00000505575.1:n.*589+98G>A
ENST00000680105.1:c.*313+98G>A	ENSP00000506284.1:n.*313+98G>A
ENST00000680191.1:c.930+98G>A	ENSP00000506544.1:n.930+98G>A
ENST00000680208.1:n.959+98G>A
ENST00000680226.1:c.855+98G>A	ENSP00000505635.1:n.855+98G>A
ENST00000680259.1:c.*1356+98G>A	ENSP00000504869.1:n.*1356+98G>A
ENST00000680368.1:n.2374+98G>A
ENST00000680400.1:c.-115+98G>A	ENSP00000505382.1:n.-115+98G>A
ENST00000680416.1:c.*1154+98G>A	ENSP00000506306.1:n.*1154+98G>A
ENST00000680547.1:n.1556+98G>A
ENST00000680559.1:n.1843+98G>A
ENST00000680593.1:c.855+98G>A	ENSP00000505754.1:n.855+98G>A
ENST00000680719.1:n.1041+98G>A
ENST00000680732.1:c.*313+98G>A	ENSP00000505727.1:n.*313+98G>A
ENST00000680799.1:n.904+98G>A
ENST00000680838.1:n.1546+98G>A
ENST00000680846.1:c.*476+98G>A	ENSP00000506612.1:n.*476+98G>A
ENST00000680847.1:c.*343+98G>A	ENSP00000506451.1:n.*343+98G>A
ENST00000680884.1:c.957+98G>A	ENSP00000505953.1:n.957+98G>A
ENST00000680909.1:c.*1182+98G>A	ENSP00000505545.1:n.*1182+98G>A
ENST00000680914.1:c.795+98G>A	ENSP00000505149.1:n.795+98G>A
ENST00000681020.1:c.855+98G>A	ENSP00000506014.1:n.855+98G>A
ENST00000681030.1:c.*1108+98G>A	ENSP00000505707.1:n.*1108+98G>A
ENST00000681031.1:c.*644+98G>A	ENSP00000505466.1:n.*644+98G>A
ENST00000681068.1:n.1367+98G>A
ENST00000681161.1:c.648+98G>A	ENSP00000505659.1:n.648+98G>A
ENST00000681259.1:n.1412+98G>A
ENST00000681420.1:c.855+98G>A	ENSP00000505993.1:n.855+98G>A
ENST00000681485.1:n.1088+98G>A
ENST00000681515.1:c.*258+98G>A	ENSP00000505872.1:n.*258+98G>A
ENST00000681566.1:c.*38+98G>A	ENSP00000506218.1:n.*38+98G>A
ENST00000681571.1:n.1710G>A
ENST00000681614.1:n.1249+98G>A
ENST00000681693.1:c.774+98G>A	ENSP00000505096.1:n.774+98G>A
ENST00000681760.1:c.*670+98G>A	ENSP00000506555.1:n.*670+98G>A
ENST00000681835.1:n.2201+98G>A
ENST00000681872.1:n.1142+98G>A
ENST00000681933.1:c.*672+98G>A	ENSP00000504864.1:n.*672+98G>A
ENST00000681954.1:n.1685G>A
ENST00000331483.8:c.855+98G>A	ENSP00000327801.4:n.855+98G>A
ENST00000415593.5:c.151+98G>A
ENST00000439918.6:c.723+98G>A	ENSP00000388374.2:n.723+98G>A
ENST00000472244.5:n.738+98G>A
ENST00000477607.6:n.927+98G>A
ENST00000478034.5:n.541+98G>A
ENST00000570907.5:c.264+98G>A	ENSP00000461362.1:n.264+98G>A
ENST00000571617.1:c.244-1202G>A	ENSP00000458300.1:n.244-1202G>A
ENST00000575069.5:c.*670+98G>A	ENSP00000459211.1:n.*670+98G>A
ENST00000576380.5:c.402+98G>A	ENSP00000460285.1:n.402+98G>A
ENST00000576390.5:c.234-3249G>A	ENSP00000461718.1:n.234-3249G>A
NM_000918.3:c.855+98G>A	NP_000909.2:n.855+98G>A
XM_024450777.1:c.855+98G>A	XP_024306545.1:n.855+98G>A
XR_002958014.1:n.919+98G>A
NM_000918.4:c.855+98G>A MANE Select	NP_000909.2:n.855+98G>A