Canonical Allele Identifier: CA374619022

Gene: WHRN

Linked Data

• MyVariant Identifiers: chr9:g.117165180C>G (hg19) ; chr9:g.114402900C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114402900C>G , CM000671.2:g.114402900C>G	GRCh38
NC_000009.11:g.117165180C>G , CM000671.1:g.117165180C>G	GRCh37
NC_000009.10:g.116205001C>G	NCBI36
NG_016700.1:g.107557G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699485.1:c.922G>C	ENSP00000514396.1:p.Val308Leu
ENST00000362057.4:c.2578G>C MANE Select	ENSP00000354623.3:p.Val860Leu
ENST00000674036.8:c.1551G>C
ENST00000674048.1:n.2459G>C
ENST00000265134.10:c.1429G>C	ENSP00000265134.6:p.Val477Leu
ENST00000362057.3:c.2578G>C	ENSP00000354623.3:p.Val860Leu
ENST00000374059.7:c.1525G>C	ENSP00000363172.3:p.Val509Leu
NM_001083885.2:c.1429G>C	NP_001077354.2:p.Val477Leu
NM_001173425.1:c.2575G>C	NP_001166896.1:p.Val859Leu
NM_015404.3:c.2578G>C	NP_056219.3:p.Val860Leu
XM_005251897.3:c.1915G>C	XP_005251954.2:p.Val639Leu
XM_011518484.1:c.2611G>C	XP_011516786.1:p.Val871Leu
XM_011518485.1:c.2611G>C	XP_011516787.1:p.Val871Leu
XM_011518486.1:c.2608G>C	XP_011516788.1:p.Val870Leu
XM_011518487.1:c.2485G>C	XP_011516789.1:p.Val829Leu
XM_011518488.1:c.2368G>C	XP_011516790.1:p.Val790Leu
XM_011518495.1:c.1288G>C	XP_011516797.1:p.Val430Leu
NM_001346890.1:c.1525G>C	NP_001333819.1:p.Val509Leu
XM_011518486.2:c.2608G>C	XP_011516788.1:p.Val870Leu
XM_011518487.2:c.2485G>C	XP_011516789.1:p.Val829Leu
XM_011518488.2:c.2368G>C	XP_011516790.1:p.Val790Leu
NM_015404.4:c.2578G>C MANE Select	NP_056219.3:p.Val860Leu
NM_001173425.2:c.2575G>C	NP_001166896.1:p.Val859Leu
NM_001083885.3:c.1429G>C	NP_001077354.2:p.Val477Leu