Canonical Allele Identifier: CA374620341

Gene: WHRN

Linked Data

• dbSNP Id: rs1835038930
• MyVariant Identifiers: chr9:g.117168791C>T (hg19) ; chr9:g.114406511C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114406511C>T , CM000671.2:g.114406511C>T	GRCh38
NC_000009.11:g.117168791C>T , CM000671.1:g.117168791C>T	GRCh37
NC_000009.10:g.116208612C>T	NCBI36
NG_016700.1:g.103946G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000699485.1:c.424G>A	ENSP00000514396.1:p.Ala142Thr
ENST00000362057.4:c.2080G>A MANE Select	ENSP00000354623.3:p.Ala694Thr
ENST00000674036.8:c.1053G>A
ENST00000674048.1:n.1961G>A
ENST00000265134.10:c.931G>A	ENSP00000265134.6:p.Ala311Thr
ENST00000362057.3:c.2080G>A	ENSP00000354623.3:p.Ala694Thr
ENST00000374059.7:c.1027G>A	ENSP00000363172.3:p.Ala343Thr
NM_001083885.2:c.931G>A	NP_001077354.2:p.Ala311Thr
NM_001173425.1:c.2080G>A	NP_001166896.1:p.Ala694Thr
NM_015404.3:c.2080G>A	NP_056219.3:p.Ala694Thr
XM_005251897.3:c.1417G>A	XP_005251954.2:p.Ala473Thr
XM_011518484.1:c.2113G>A	XP_011516786.1:p.Ala705Thr
XM_011518485.1:c.2113G>A	XP_011516787.1:p.Ala705Thr
XM_011518486.1:c.2113G>A	XP_011516788.1:p.Ala705Thr
XM_011518487.1:c.1987G>A	XP_011516789.1:p.Ala663Thr
XM_011518488.1:c.1870G>A	XP_011516790.1:p.Ala624Thr
XM_011518495.1:c.790G>A	XP_011516797.1:p.Ala264Thr
XR_929747.1:n.3017G>A
XR_929748.1:n.2915G>A
NM_001346890.1:c.1027G>A	NP_001333819.1:p.Ala343Thr
XM_011518486.2:c.2113G>A	XP_011516788.1:p.Ala705Thr
XM_011518487.2:c.1987G>A	XP_011516789.1:p.Ala663Thr
XM_011518488.2:c.1870G>A	XP_011516790.1:p.Ala624Thr
XR_929747.2:n.2328G>A
XR_929748.2:n.2226G>A
NM_015404.4:c.2080G>A MANE Select	NP_056219.3:p.Ala694Thr
NM_001173425.2:c.2080G>A	NP_001166896.1:p.Ala694Thr
NM_001083885.3:c.931G>A	NP_001077354.2:p.Ala311Thr