Canonical Allele Identifier: CA374620114

Gene: WHRN

Linked Data

• gnomAD v4: 9-114406403-C-A
• MyVariant Identifiers: chr9:g.117168683C>A (hg19) ; chr9:g.114406403C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114406403C>A , CM000671.2:g.114406403C>A	GRCh38
NC_000009.11:g.117168683C>A , CM000671.1:g.117168683C>A	GRCh37
NC_000009.10:g.116208504C>A	NCBI36
NG_016700.1:g.104054G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000699485.1:c.532G>T	ENSP00000514396.1:p.Asp178Tyr
ENST00000362057.4:c.2188G>T MANE Select	ENSP00000354623.3:p.Asp730Tyr
ENST00000674036.8:c.1161G>T
ENST00000674048.1:n.2069G>T
ENST00000265134.10:c.1039G>T	ENSP00000265134.6:p.Asp347Tyr
ENST00000362057.3:c.2188G>T	ENSP00000354623.3:p.Asp730Tyr
ENST00000374059.7:c.1135G>T	ENSP00000363172.3:p.Asp379Tyr
NM_001083885.2:c.1039G>T	NP_001077354.2:p.Asp347Tyr
NM_001173425.1:c.2188G>T	NP_001166896.1:p.Asp730Tyr
NM_015404.3:c.2188G>T	NP_056219.3:p.Asp730Tyr
XM_005251897.3:c.1525G>T	XP_005251954.2:p.Asp509Tyr
XM_011518484.1:c.2221G>T	XP_011516786.1:p.Asp741Tyr
XM_011518485.1:c.2221G>T	XP_011516787.1:p.Asp741Tyr
XM_011518486.1:c.2221G>T	XP_011516788.1:p.Asp741Tyr
XM_011518487.1:c.2095G>T	XP_011516789.1:p.Asp699Tyr
XM_011518488.1:c.1978G>T	XP_011516790.1:p.Asp660Tyr
XM_011518495.1:c.898G>T	XP_011516797.1:p.Asp300Tyr
XR_929747.1:n.3125G>T
XR_929748.1:n.3023G>T
NM_001346890.1:c.1135G>T	NP_001333819.1:p.Asp379Tyr
XM_011518486.2:c.2221G>T	XP_011516788.1:p.Asp741Tyr
XM_011518487.2:c.2095G>T	XP_011516789.1:p.Asp699Tyr
XM_011518488.2:c.1978G>T	XP_011516790.1:p.Asp660Tyr
XR_929747.2:n.2436G>T
XR_929748.2:n.2334G>T
NM_015404.4:c.2188G>T MANE Select	NP_056219.3:p.Asp730Tyr
NM_001173425.2:c.2188G>T	NP_001166896.1:p.Asp730Tyr
NM_001083885.3:c.1039G>T	NP_001077354.2:p.Asp347Tyr