Canonical Allele Identifier: CA413854399

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687607C>T , CM000685.2:g.108687607C>T	GRCh38
NC_000023.10:g.107930837C>T , CM000685.1:g.107930837C>T	GRCh37
NC_000023.9:g.107817493C>T	NCBI36
NG_011977.1:g.252684C>T
NG_011977.2:g.252684C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_033380.3:c.4441C>T MANE Select	NP_203699.1:p.Gln1481Ter
ENST00000328300.11:c.4441C>T MANE Select	ENSP00000331902.7:p.Gln1481Ter
NM_000495.4:c.4423C>T	NP_000486.1:p.Gln1475Ter
NM_000495.5:c.4423C>T	NP_000486.1:p.Gln1475Ter
NM_033380.2:c.4441C>T	NP_203699.1:p.Gln1481Ter
ENST00000328300.10:c.4441C>T	ENSP00000331902.6:p.Gln1481Ter
ENST00000361603.6:c.4423C>T	ENSP00000354505.2:p.Gln1475Ter
ENST00000361603.7:c.4423C>T	ENSP00000354505.2:p.Gln1475Ter
ENST00000510690.2:n.935C>T
ENST00000515658.1:c.237C>T
XM_005262070.2:c.4432C>T	XP_005262127.1:p.Gln1478Ter
XM_006724616.2:c.4441C>T	XP_006724679.1:p.Gln1481Ter
XM_011530849.1:c.4117C>T	XP_011529151.1:p.Gln1373Ter
XM_011530849.2:c.4456C>T	XP_011529151.2:p.Gln1486Ter
XM_011530851.1:c.2014C>T	XP_011529153.1:p.Gln672Ter
XM_017029259.2:c.4447C>T	XP_016884748.1:p.Gln1483Ter
XM_017029260.1:c.4438C>T	XP_016884749.1:p.Gln1480Ter
XM_017029263.2:c.2776C>T	XP_016884752.1:p.Gln926Ter