Canonical Allele Identifier: CA671766294

Gene:

Linked Data

• dbSNP Id: rs1440902459
• gnomAD v3: 11-112164844-T-G
• gnomAD v4: 11-112164844-T-G
• MyVariant Identifiers: chr11:g.112035567T>G (hg19) ; chr11:g.112164844T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112164844T>G , CM000673.2:g.112164844T>G	GRCh38
NC_000011.9:g.112035567T>G , CM000673.1:g.112035567T>G	GRCh37
NC_000011.8:g.111540777T>G	NCBI36
NG_028143.1:g.4274A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000525987.5:n.320-5575T>G
ENST00000531744.5:c.315-5575T>G	ENSP00000456957.1:n.315-5575T>G
ENST00000532699.1:c.315-5575T>G	ENSP00000456434.1:n.315-5575T>G