Canonical Allele Identifier: CA382646709

Gene: ANKK1

Linked Data

• gnomAD v4: 11-113399910-G-C
• MyVariant Identifiers: chr11:g.113270632G>C (hg19) ; chr11:g.113399910G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399910G>C , CM000673.2:g.113399910G>C	GRCh38
NC_000011.9:g.113270632G>C , CM000673.1:g.113270632G>C	GRCh37
NC_000011.8:g.112775842G>C	NCBI36
NG_012976.1:g.17120G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303941.4:c.1941G>C MANE Select	ENSP00000306678.3:p.Gln647His
ENST00000303941.3:c.1941G>C	ENSP00000306678.3:p.Gln647His
NM_178510.1:c.1941G>C	NP_848605.1:p.Gln647His
XM_011542736.1:c.1974G>C	XP_011541038.1:p.Gln658His
XM_011542737.1:c.1944G>C	XP_011541039.1:p.Gln648His
XM_011542738.1:c.1752G>C	XP_011541040.1:p.Gln584His
XM_011542736.2:c.1974G>C	XP_011541038.1:p.Gln658His
XM_011542737.2:c.1944G>C	XP_011541039.1:p.Gln648His
XM_011542738.2:c.1752G>C	XP_011541040.1:p.Gln584His
XM_017017475.1:c.1971G>C	XP_016872964.1:p.Gln657His
NM_178510.2:c.1941G>C MANE Select	NP_848605.1:p.Gln647His