Canonical Allele Identifier: CA228571753

Gene:

Linked Data

• dbSNP Id: rs1056939410
• gnomAD v3: 11-112164809-A-G
• gnomAD v4: 11-112164809-A-G
• MyVariant Identifiers: chr11:g.112035532A>G (hg19) ; chr11:g.112164809A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112164809A>G , CM000673.2:g.112164809A>G	GRCh38
NC_000011.9:g.112035532A>G , CM000673.1:g.112035532A>G	GRCh37
NC_000011.8:g.111540742A>G	NCBI36
NG_028143.1:g.4309T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000525987.5:n.320-5610A>G
ENST00000531744.5:c.315-5610A>G	ENSP00000456957.1:n.315-5610A>G
ENST00000532699.1:c.315-5610A>G	ENSP00000456434.1:n.315-5610A>G