Canonical Allele Identifier: CA382644575

Gene: ANKK1

Linked Data

• ClinVar Variation Id: 2320809
• ClinVar RCV Id: RCV004170416
• gnomAD v4: 11-113399209-C-T
• COSMIC: COSM1604117
• MyVariant Identifiers: chr11:g.113269931C>T (hg19) ; chr11:g.113399209C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113399209C>T , CM000673.2:g.113399209C>T	GRCh38
NC_000011.9:g.113269931C>T , CM000673.1:g.113269931C>T	GRCh37
NC_000011.8:g.112775141C>T	NCBI36
NG_012976.1:g.16419C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303941.4:c.1240C>T MANE Select	ENSP00000306678.3:p.Leu414Phe
ENST00000303941.3:c.1240C>T	ENSP00000306678.3:p.Leu414Phe
NM_178510.1:c.1240C>T	NP_848605.1:p.Leu414Phe
XM_011542736.1:c.1273C>T	XP_011541038.1:p.Leu425Phe
XM_011542737.1:c.1243C>T	XP_011541039.1:p.Leu415Phe
XM_011542738.1:c.1051C>T	XP_011541040.1:p.Leu351Phe
XM_011542736.2:c.1273C>T	XP_011541038.1:p.Leu425Phe
XM_011542737.2:c.1243C>T	XP_011541039.1:p.Leu415Phe
XM_011542738.2:c.1051C>T	XP_011541040.1:p.Leu351Phe
XM_017017475.1:c.1270C>T	XP_016872964.1:p.Leu424Phe
NM_178510.2:c.1240C>T MANE Select	NP_848605.1:p.Leu414Phe