Canonical Allele Identifier: CA374619753

Gene: WHRN

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114403982G>C , CM000671.2:g.114403982G>C	GRCh38
NC_000009.11:g.117166262G>C , CM000671.1:g.117166262G>C	GRCh37
NC_000009.10:g.116206083G>C	NCBI36
NG_016700.1:g.106475C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015404.4:c.2332C>G MANE Select	NP_056219.3:p.Arg778Gly
ENST00000362057.4:c.2332C>G MANE Select	ENSP00000354623.3:p.Arg778Gly
NM_001083885.2:c.1183C>G	NP_001077354.2:p.Arg395Gly
NM_001083885.3:c.1183C>G	NP_001077354.2:p.Arg395Gly
NM_001173425.1:c.2329C>G	NP_001166896.1:p.Arg777Gly
NM_001173425.2:c.2329C>G	NP_001166896.1:p.Arg777Gly
NM_001346890.1:c.1279C>G	NP_001333819.1:p.Arg427Gly
NM_015404.3:c.2332C>G	NP_056219.3:p.Arg778Gly
ENST00000265134.10:c.1183C>G	ENSP00000265134.6:p.Arg395Gly
ENST00000362057.3:c.2332C>G	ENSP00000354623.3:p.Arg778Gly
ENST00000374059.7:c.1279C>G	ENSP00000363172.3:p.Arg427Gly
ENST00000674036.8:c.1305C>G
ENST00000674048.1:n.2213C>G
ENST00000699485.1:c.676C>G	ENSP00000514396.1:p.Arg226Gly
XM_005251897.3:c.1669C>G	XP_005251954.2:p.Arg557Gly
XM_011518484.1:c.2365C>G	XP_011516786.1:p.Arg789Gly
XM_011518485.1:c.2365C>G	XP_011516787.1:p.Arg789Gly
XM_011518486.1:c.2362C>G	XP_011516788.1:p.Arg788Gly
XM_011518486.2:c.2362C>G	XP_011516788.1:p.Arg788Gly
XM_011518487.1:c.2239C>G	XP_011516789.1:p.Arg747Gly
XM_011518487.2:c.2239C>G	XP_011516789.1:p.Arg747Gly
XM_011518488.1:c.2122C>G	XP_011516790.1:p.Arg708Gly
XM_011518488.2:c.2122C>G	XP_011516790.1:p.Arg708Gly
XM_011518495.1:c.1042C>G	XP_011516797.1:p.Arg348Gly
XR_929747.1:n.3269C>G
XR_929747.2:n.2580C>G
XR_929748.1:n.3167C>G
XR_929748.2:n.2478C>G