Canonical Allele Identifier: CA382647131

Gene: ANKK1

Linked Data

• ClinVar Variation Id: 2225304
• ClinVar RCV Id: RCV002722545
• gnomAD v4: 11-113400012-T-G
• MyVariant Identifiers: chr11:g.113270734T>G (hg19) ; chr11:g.113400012T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.113400012T>G , CM000673.2:g.113400012T>G	GRCh38
NC_000011.9:g.113270734T>G , CM000673.1:g.113270734T>G	GRCh37
NC_000011.8:g.112775944T>G	NCBI36
NG_012976.1:g.17222T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000303941.4:c.2043T>G MANE Select	ENSP00000306678.3:p.His681Gln
ENST00000303941.3:c.2043T>G	ENSP00000306678.3:p.His681Gln
NM_178510.1:c.2043T>G	NP_848605.1:p.His681Gln
XM_011542736.1:c.2076T>G	XP_011541038.1:p.His692Gln
XM_011542737.1:c.2046T>G	XP_011541039.1:p.His682Gln
XM_011542738.1:c.1854T>G	XP_011541040.1:p.His618Gln
XM_011542736.2:c.2076T>G	XP_011541038.1:p.His692Gln
XM_011542737.2:c.2046T>G	XP_011541039.1:p.His682Gln
XM_011542738.2:c.1854T>G	XP_011541040.1:p.His618Gln
XM_017017475.1:c.2073T>G	XP_016872964.1:p.His691Gln
NM_178510.2:c.2043T>G MANE Select	NP_848605.1:p.His681Gln