Canonical Allele Identifier: CA374621183

Gene: WHRN

Linked Data

• MyVariant Identifiers: chr9:g.117170265C>G (hg19) ; chr9:g.114407985C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114407985C>G , CM000671.2:g.114407985C>G	GRCh38
NC_000009.11:g.117170265C>G , CM000671.1:g.117170265C>G	GRCh37
NC_000009.10:g.116210086C>G	NCBI36
NG_016700.1:g.102472G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362057.4:c.1660G>C MANE Select	ENSP00000354623.3:p.Val554Leu
ENST00000673811.1:n.2384G>C
ENST00000674036.8:c.633G>C
ENST00000674048.1:n.1541G>C
ENST00000265134.10:c.511G>C	ENSP00000265134.6:p.Val171Leu
ENST00000362057.3:c.1660G>C	ENSP00000354623.3:p.Val554Leu
ENST00000374059.7:c.607G>C	ENSP00000363172.3:p.Val203Leu
NM_001083885.2:c.511G>C	NP_001077354.2:p.Val171Leu
NM_001173425.1:c.1660G>C	NP_001166896.1:p.Val554Leu
NM_015404.3:c.1660G>C	NP_056219.3:p.Val554Leu
XM_005251897.3:c.997G>C	XP_005251954.2:p.Val333Leu
XM_011518484.1:c.1693G>C	XP_011516786.1:p.Val565Leu
XM_011518485.1:c.1693G>C	XP_011516787.1:p.Val565Leu
XM_011518486.1:c.1693G>C	XP_011516788.1:p.Val565Leu
XM_011518487.1:c.1567G>C	XP_011516789.1:p.Val523Leu
XM_011518488.1:c.1450G>C	XP_011516790.1:p.Val484Leu
XM_011518492.1:c.*45G>C	XP_011516794.1:n.*45G>C
XM_011518495.1:c.370G>C	XP_011516797.1:p.Val124Leu
XR_929747.1:n.2597G>C
XR_929748.1:n.2495G>C
XR_929750.1:n.2596G>C
XR_929751.1:n.2503G>C
XR_929757.1:n.2470G>C
NM_001346890.1:c.607G>C	NP_001333819.1:p.Val203Leu
XM_011518486.2:c.1693G>C	XP_011516788.1:p.Val565Leu
XM_011518487.2:c.1567G>C	XP_011516789.1:p.Val523Leu
XM_011518488.2:c.1450G>C	XP_011516790.1:p.Val484Leu
XM_011518492.2:c.*45G>C	XP_011516794.1:n.*45G>C
XR_929747.2:n.1908G>C
XR_929748.2:n.1806G>C
XR_929750.3:n.1907G>C
XR_929757.2:n.1781G>C
NM_015404.4:c.1660G>C MANE Select	NP_056219.3:p.Val554Leu
NM_001173425.2:c.1660G>C	NP_001166896.1:p.Val554Leu
NM_001083885.3:c.511G>C	NP_001077354.2:p.Val171Leu