Canonical Allele Identifier: CA6280878

Gene: ANKK1

Linked Data

• dbSNP Id: rs774992704
• ExAC: 11:113269831 G / C
• gnomAD v2: 11-113269831-G-C
• gnomAD v3: 11-113399109-G-C
• gnomAD v4: 11-113399109-G-C
• MyVariant Identifiers: chr11:g.113269831G>C (hg19) ; chr11:g.113399109G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399109G>C , CM000673.2:g.113399109G>C	GRCh38
NC_000011.9:g.113269831G>C , CM000673.1:g.113269831G>C	GRCh37
NC_000011.8:g.112775041G>C	NCBI36
NG_012976.1:g.16319G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303941.4:c.1140G>C MANE Select	ENSP00000306678.3:p.Leu380Phe
ENST00000303941.3:c.1140G>C	ENSP00000306678.3:p.Leu380Phe
NM_178510.1:c.1140G>C	NP_848605.1:p.Leu380Phe
XM_011542736.1:c.1173G>C	XP_011541038.1:p.Leu391Phe
XM_011542737.1:c.1143G>C	XP_011541039.1:p.Leu381Phe
XM_011542738.1:c.951G>C	XP_011541040.1:p.Leu317Phe
XM_011542736.2:c.1173G>C	XP_011541038.1:p.Leu391Phe
XM_011542737.2:c.1143G>C	XP_011541039.1:p.Leu381Phe
XM_011542738.2:c.951G>C	XP_011541040.1:p.Leu317Phe
XM_017017475.1:c.1170G>C	XP_016872964.1:p.Leu390Phe
NM_178510.2:c.1140G>C MANE Select	NP_848605.1:p.Leu380Phe