Canonical Allele Identifier: CA374609303

Gene: WHRN

Linked Data

• dbSNP Id: rs778445696
• gnomAD v2: 9-117186826-G-A
• MyVariant Identifiers: chr9:g.117186826G>A (hg19) ; chr9:g.114424546G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114424546G>A , CM000671.2:g.114424546G>A	GRCh38
NC_000009.11:g.117186826G>A , CM000671.1:g.117186826G>A	GRCh37
NC_000009.10:g.116226647G>A	NCBI36
NG_016700.1:g.85911C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699486.1:c.928C>T	ENSP00000514397.1:p.Pro310Ser
ENST00000362057.4:c.1204C>T MANE Select	ENSP00000354623.3:p.Pro402Ser
ENST00000673811.1:n.2138C>T
ENST00000674036.8:c.387C>T
ENST00000674048.1:n.1085C>T
ENST00000265134.10:c.55C>T	ENSP00000265134.6:p.Pro19Ser
ENST00000362057.3:c.1204C>T	ENSP00000354623.3:p.Pro402Ser
ENST00000374059.7:c.151C>T	ENSP00000363172.3:p.Pro51Ser
NM_001083885.2:c.55C>T	NP_001077354.2:p.Pro19Ser
NM_001173425.1:c.1204C>T	NP_001166896.1:p.Pro402Ser
NM_015404.3:c.1204C>T	NP_056219.3:p.Pro402Ser
XM_005251897.3:c.964-16528C>T	XP_005251954.2:n.964-16528C>T
XM_011518484.1:c.1204C>T	XP_011516786.1:p.Pro402Ser
XM_011518485.1:c.1204C>T	XP_011516787.1:p.Pro402Ser
XM_011518486.1:c.1204C>T	XP_011516788.1:p.Pro402Ser
XM_011518487.1:c.1078C>T	XP_011516789.1:p.Pro360Ser
XM_011518488.1:c.1204C>T	XP_011516790.1:p.Pro402Ser
XM_011518489.1:c.1204C>T	XP_011516791.1:p.Pro402Ser
XM_011518490.1:c.1204C>T	XP_011516792.1:p.Pro402Ser
XM_011518491.1:c.1204C>T	XP_011516793.1:p.Pro402Ser
XM_011518492.1:c.1204C>T	XP_011516794.1:p.Pro402Ser
XM_011518493.1:c.1204C>T	XP_011516795.1:p.Pro402Ser
XM_011518494.1:c.1204C>T	XP_011516796.1:p.Pro402Ser
XM_011518495.1:c.-120C>T	XP_011516797.1:n.-120C>T
XR_929747.1:n.1912C>T
XR_929748.1:n.1912C>T
XR_929749.1:n.1912C>T
XR_929750.1:n.1912C>T
XR_929751.1:n.1912C>T
XR_929752.1:n.1912C>T
XR_929753.1:n.1912C>T
XR_929754.1:n.1912C>T
XR_929755.1:n.1912C>T
XR_929756.1:n.1912C>T
XR_929757.1:n.1912C>T
NM_001346890.1:c.151C>T	NP_001333819.1:p.Pro51Ser
XM_011518486.2:c.1204C>T	XP_011516788.1:p.Pro402Ser
XM_011518487.2:c.1078C>T	XP_011516789.1:p.Pro360Ser
XM_011518488.2:c.1204C>T	XP_011516790.1:p.Pro402Ser
XM_011518489.3:c.1204C>T	XP_011516791.1:p.Pro402Ser
XM_011518491.3:c.1204C>T	XP_011516793.1:p.Pro402Ser
XM_011518492.2:c.1204C>T	XP_011516794.1:p.Pro402Ser
XM_011518494.3:c.1204C>T	XP_011516796.1:p.Pro402Ser
XR_929747.2:n.1223C>T
XR_929748.2:n.1223C>T
XR_929749.2:n.1223C>T
XR_929750.3:n.1223C>T
XR_929752.2:n.1223C>T
XR_929753.3:n.1223C>T
XR_929754.2:n.1223C>T
XR_929755.3:n.1223C>T
XR_929756.2:n.1223C>T
XR_929757.2:n.1223C>T
NM_015404.4:c.1204C>T MANE Select	NP_056219.3:p.Pro402Ser
NM_001173425.2:c.1204C>T	NP_001166896.1:p.Pro402Ser
NM_001083885.3:c.55C>T	NP_001077354.2:p.Pro19Ser