Canonical Allele Identifier: CA601754088

Gene:

Linked Data

• dbSNP Id: rs1316671246
• gnomAD v2: 11-112037368-C-A
• gnomAD v3: 11-112166645-C-A
• gnomAD v4: 11-112166645-C-A
• MyVariant Identifiers: chr11:g.112037368C>A (hg19) ; chr11:g.112166645C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112166645C>A , CM000673.2:g.112166645C>A	GRCh38
NC_000011.9:g.112037368C>A , CM000673.1:g.112037368C>A	GRCh37
NC_000011.8:g.111542578C>A	NCBI36
NG_028143.1:g.2473G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525987.5:n.320-3774C>A
ENST00000531744.5:c.315-3774C>A	ENSP00000456957.1:n.315-3774C>A
ENST00000532699.1:c.315-3774C>A	ENSP00000456434.1:n.315-3774C>A