Canonical Allele Identifier: CA6280900

Gene: ANKK1

Linked Data

• dbSNP Id: rs200699123
• ExAC: 11:113269907 C / G
• gnomAD v2: 11-113269907-C-G
• gnomAD v3: 11-113399185-C-G
• gnomAD v4: 11-113399185-C-G
• MyVariant Identifiers: chr11:g.113269907C>G (hg19) ; chr11:g.113399185C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399185C>G , CM000673.2:g.113399185C>G	GRCh38
NC_000011.9:g.113269907C>G , CM000673.1:g.113269907C>G	GRCh37
NC_000011.8:g.112775117C>G	NCBI36
NG_012976.1:g.16395C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303941.4:c.1216C>G MANE Select	ENSP00000306678.3:p.Gln406Glu
ENST00000303941.3:c.1216C>G	ENSP00000306678.3:p.Gln406Glu
NM_178510.1:c.1216C>G	NP_848605.1:p.Gln406Glu
XM_011542736.1:c.1249C>G	XP_011541038.1:p.Gln417Glu
XM_011542737.1:c.1219C>G	XP_011541039.1:p.Gln407Glu
XM_011542738.1:c.1027C>G	XP_011541040.1:p.Gln343Glu
XM_011542736.2:c.1249C>G	XP_011541038.1:p.Gln417Glu
XM_011542737.2:c.1219C>G	XP_011541039.1:p.Gln407Glu
XM_011542738.2:c.1027C>G	XP_011541040.1:p.Gln343Glu
XM_017017475.1:c.1246C>G	XP_016872964.1:p.Gln416Glu
NM_178510.2:c.1216C>G MANE Select	NP_848605.1:p.Gln406Glu