Canonical Allele Identifier: CA374620340

Gene: WHRN

Linked Data

• MyVariant Identifiers: chr9:g.117168790G>T (hg19) ; chr9:g.114406510G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114406510G>T , CM000671.2:g.114406510G>T	GRCh38
NC_000009.11:g.117168790G>T , CM000671.1:g.117168790G>T	GRCh37
NC_000009.10:g.116208611G>T	NCBI36
NG_016700.1:g.103947C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000699485.1:c.425C>A	ENSP00000514396.1:p.Ala142Glu
ENST00000362057.4:c.2081C>A MANE Select	ENSP00000354623.3:p.Ala694Glu
ENST00000674036.8:c.1054C>A
ENST00000674048.1:n.1962C>A
ENST00000265134.10:c.932C>A	ENSP00000265134.6:p.Ala311Glu
ENST00000362057.3:c.2081C>A	ENSP00000354623.3:p.Ala694Glu
ENST00000374059.7:c.1028C>A	ENSP00000363172.3:p.Ala343Glu
NM_001083885.2:c.932C>A	NP_001077354.2:p.Ala311Glu
NM_001173425.1:c.2081C>A	NP_001166896.1:p.Ala694Glu
NM_015404.3:c.2081C>A	NP_056219.3:p.Ala694Glu
XM_005251897.3:c.1418C>A	XP_005251954.2:p.Ala473Glu
XM_011518484.1:c.2114C>A	XP_011516786.1:p.Ala705Glu
XM_011518485.1:c.2114C>A	XP_011516787.1:p.Ala705Glu
XM_011518486.1:c.2114C>A	XP_011516788.1:p.Ala705Glu
XM_011518487.1:c.1988C>A	XP_011516789.1:p.Ala663Glu
XM_011518488.1:c.1871C>A	XP_011516790.1:p.Ala624Glu
XM_011518495.1:c.791C>A	XP_011516797.1:p.Ala264Glu
XR_929747.1:n.3018C>A
XR_929748.1:n.2916C>A
NM_001346890.1:c.1028C>A	NP_001333819.1:p.Ala343Glu
XM_011518486.2:c.2114C>A	XP_011516788.1:p.Ala705Glu
XM_011518487.2:c.1988C>A	XP_011516789.1:p.Ala663Glu
XM_011518488.2:c.1871C>A	XP_011516790.1:p.Ala624Glu
XR_929747.2:n.2329C>A
XR_929748.2:n.2227C>A
NM_015404.4:c.2081C>A MANE Select	NP_056219.3:p.Ala694Glu
NM_001173425.2:c.2081C>A	NP_001166896.1:p.Ala694Glu
NM_001083885.3:c.932C>A	NP_001077354.2:p.Ala311Glu