Canonical Allele Identifier: CA6280884

Gene: ANKK1

Linked Data

• ClinVar Variation Id: 711561
• ClinVar RCV Id: RCV000883343
• dbSNP Id: rs17115457
• ExAC: 11:113269852 C / T
• gnomAD v2: 11-113269852-C-T
• gnomAD v3: 11-113399130-C-T
• gnomAD v4: 11-113399130-C-T
• MyVariant Identifiers: chr11:g.113269852C>T (hg19) ; chr11:g.113399130C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399130C>T , CM000673.2:g.113399130C>T	GRCh38
NC_000011.9:g.113269852C>T , CM000673.1:g.113269852C>T	GRCh37
NC_000011.8:g.112775062C>T	NCBI36
NG_012976.1:g.16340C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303941.4:c.1161C>T MANE Select	ENSP00000306678.3:p.Asp387=
ENST00000303941.3:c.1161C>T	ENSP00000306678.3:p.Asp387=
NM_178510.1:c.1161C>T	NP_848605.1:p.Asp387=
XM_011542736.1:c.1194C>T	XP_011541038.1:p.Asp398=
XM_011542737.1:c.1164C>T	XP_011541039.1:p.Asp388=
XM_011542738.1:c.972C>T	XP_011541040.1:p.Asp324=
XM_011542736.2:c.1194C>T	XP_011541038.1:p.Asp398=
XM_011542737.2:c.1164C>T	XP_011541039.1:p.Asp388=
XM_011542738.2:c.972C>T	XP_011541040.1:p.Asp324=
XM_017017475.1:c.1191C>T	XP_016872964.1:p.Asp397=
NM_178510.2:c.1161C>T MANE Select	NP_848605.1:p.Asp387=