Canonical Allele Identifier: CA374620316

Gene: WHRN

Linked Data

• MyVariant Identifiers: chr9:g.117168779C>G (hg19) ; chr9:g.114406499C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114406499C>G , CM000671.2:g.114406499C>G	GRCh38
NC_000009.11:g.117168779C>G , CM000671.1:g.117168779C>G	GRCh37
NC_000009.10:g.116208600C>G	NCBI36
NG_016700.1:g.103958G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000699485.1:c.436G>C	ENSP00000514396.1:p.Val146Leu
ENST00000362057.4:c.2092G>C MANE Select	ENSP00000354623.3:p.Val698Leu
ENST00000674036.8:c.1065G>C
ENST00000674048.1:n.1973G>C
ENST00000265134.10:c.943G>C	ENSP00000265134.6:p.Val315Leu
ENST00000362057.3:c.2092G>C	ENSP00000354623.3:p.Val698Leu
ENST00000374059.7:c.1039G>C	ENSP00000363172.3:p.Val347Leu
NM_001083885.2:c.943G>C	NP_001077354.2:p.Val315Leu
NM_001173425.1:c.2092G>C	NP_001166896.1:p.Val698Leu
NM_015404.3:c.2092G>C	NP_056219.3:p.Val698Leu
XM_005251897.3:c.1429G>C	XP_005251954.2:p.Val477Leu
XM_011518484.1:c.2125G>C	XP_011516786.1:p.Val709Leu
XM_011518485.1:c.2125G>C	XP_011516787.1:p.Val709Leu
XM_011518486.1:c.2125G>C	XP_011516788.1:p.Val709Leu
XM_011518487.1:c.1999G>C	XP_011516789.1:p.Val667Leu
XM_011518488.1:c.1882G>C	XP_011516790.1:p.Val628Leu
XM_011518495.1:c.802G>C	XP_011516797.1:p.Val268Leu
XR_929747.1:n.3029G>C
XR_929748.1:n.2927G>C
NM_001346890.1:c.1039G>C	NP_001333819.1:p.Val347Leu
XM_011518486.2:c.2125G>C	XP_011516788.1:p.Val709Leu
XM_011518487.2:c.1999G>C	XP_011516789.1:p.Val667Leu
XM_011518488.2:c.1882G>C	XP_011516790.1:p.Val628Leu
XR_929747.2:n.2340G>C
XR_929748.2:n.2238G>C
NM_015404.4:c.2092G>C MANE Select	NP_056219.3:p.Val698Leu
NM_001173425.2:c.2092G>C	NP_001166896.1:p.Val698Leu
NM_001083885.3:c.943G>C	NP_001077354.2:p.Val315Leu