Canonical Allele Identifier: CA942311057

Gene:

Linked Data

• dbSNP Id: rs1866726738
• gnomAD v3: 11-112166673-T-C
• gnomAD v4: 11-112166673-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112166673T>C , CM000673.2:g.112166673T>C	GRCh38
NC_000011.9:g.112037396T>C , CM000673.1:g.112037396T>C	GRCh37
NC_000011.8:g.111542606T>C	NCBI36
NG_028143.1:g.2445A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525987.5:n.320-3746T>C
ENST00000531744.5:c.315-3746T>C	ENSP00000456957.1:n.315-3746T>C
ENST00000532699.1:c.315-3746T>C	ENSP00000456434.1:n.315-3746T>C