Canonical Allele Identifier: CA228572211

Gene:

Linked Data

• dbSNP Id: rs765976512
• gnomAD v2: 11-112037337-T-G
• gnomAD v3: 11-112166614-T-G
• gnomAD v4: 11-112166614-T-G
• MyVariant Identifiers: chr11:g.112037337T>G (hg19) ; chr11:g.112166614T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112166614T>G , CM000673.2:g.112166614T>G	GRCh38
NC_000011.9:g.112037337T>G , CM000673.1:g.112037337T>G	GRCh37
NC_000011.8:g.111542547T>G	NCBI36
NG_028143.1:g.2504A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525987.5:n.320-3805T>G
ENST00000531744.5:c.315-3805T>G	ENSP00000456957.1:n.315-3805T>G
ENST00000532699.1:c.315-3805T>G	ENSP00000456434.1:n.315-3805T>G