Canonical Allele Identifier: CA477042506

Gene: ANKK1

Linked Data

• dbSNP Id: rs1396869932
• gnomAD v2: 11-113270032-C-T
• gnomAD v4: 11-113399310-C-T
• COSMIC: COSM466337
• MyVariant Identifiers: chr11:g.113270032C>T (hg19) ; chr11:g.113399310C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399310C>T , CM000673.2:g.113399310C>T	GRCh38
NC_000011.9:g.113270032C>T , CM000673.1:g.113270032C>T	GRCh37
NC_000011.8:g.112775242C>T	NCBI36
NG_012976.1:g.16520C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303941.4:c.1341C>T MANE Select	ENSP00000306678.3:p.Leu447=
ENST00000303941.3:c.1341C>T	ENSP00000306678.3:p.Leu447=
NM_178510.1:c.1341C>T	NP_848605.1:p.Leu447=
XM_011542736.1:c.1374C>T	XP_011541038.1:p.Leu458=
XM_011542737.1:c.1344C>T	XP_011541039.1:p.Leu448=
XM_011542738.1:c.1152C>T	XP_011541040.1:p.Leu384=
XM_011542736.2:c.1374C>T	XP_011541038.1:p.Leu458=
XM_011542737.2:c.1344C>T	XP_011541039.1:p.Leu448=
XM_011542738.2:c.1152C>T	XP_011541040.1:p.Leu384=
XM_017017475.1:c.1371C>T	XP_016872964.1:p.Leu457=
NM_178510.2:c.1341C>T MANE Select	NP_848605.1:p.Leu447=