Canonical Allele Identifier: CA374619968

Gene: WHRN

Linked Data

• dbSNP Id: rs1407499903
• gnomAD v2: 9-117166339-T-C
• gnomAD v4: 9-114404059-T-C
• MyVariant Identifiers: chr9:g.117166339T>C (hg19) ; chr9:g.114404059T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114404059T>C , CM000671.2:g.114404059T>C	GRCh38
NC_000009.11:g.117166339T>C , CM000671.1:g.117166339T>C	GRCh37
NC_000009.10:g.116206160T>C	NCBI36
NG_016700.1:g.106398A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699485.1:c.599A>G	ENSP00000514396.1:p.Gln200Arg
ENST00000362057.4:c.2255A>G MANE Select	ENSP00000354623.3:p.Gln752Arg
ENST00000674036.8:c.1228A>G
ENST00000674048.1:n.2136A>G
ENST00000265134.10:c.1106A>G	ENSP00000265134.6:p.Gln369Arg
ENST00000362057.3:c.2255A>G	ENSP00000354623.3:p.Gln752Arg
ENST00000374059.7:c.1202A>G	ENSP00000363172.3:p.Gln401Arg
NM_001083885.2:c.1106A>G	NP_001077354.2:p.Gln369Arg
NM_001173425.1:c.2252A>G	NP_001166896.1:p.Gln751Arg
NM_015404.3:c.2255A>G	NP_056219.3:p.Gln752Arg
XM_005251897.3:c.1592A>G	XP_005251954.2:p.Gln531Arg
XM_011518484.1:c.2288A>G	XP_011516786.1:p.Gln763Arg
XM_011518485.1:c.2288A>G	XP_011516787.1:p.Gln763Arg
XM_011518486.1:c.2285A>G	XP_011516788.1:p.Gln762Arg
XM_011518487.1:c.2162A>G	XP_011516789.1:p.Gln721Arg
XM_011518488.1:c.2045A>G	XP_011516790.1:p.Gln682Arg
XM_011518495.1:c.965A>G	XP_011516797.1:p.Gln322Arg
XR_929747.1:n.3192A>G
XR_929748.1:n.3090A>G
NM_001346890.1:c.1202A>G	NP_001333819.1:p.Gln401Arg
XM_011518486.2:c.2285A>G	XP_011516788.1:p.Gln762Arg
XM_011518487.2:c.2162A>G	XP_011516789.1:p.Gln721Arg
XM_011518488.2:c.2045A>G	XP_011516790.1:p.Gln682Arg
XR_929747.2:n.2503A>G
XR_929748.2:n.2401A>G
NM_015404.4:c.2255A>G MANE Select	NP_056219.3:p.Gln752Arg
NM_001173425.2:c.2252A>G	NP_001166896.1:p.Gln751Arg
NM_001083885.3:c.1106A>G	NP_001077354.2:p.Gln369Arg