Canonical Allele Identifier: CA553112495

Gene:

Linked Data

• dbSNP Id: rs1407382311
• gnomAD v2: 4-100395446-T-C
• gnomAD v3: 4-99474289-T-C
• gnomAD v4: 4-99474289-T-C
• MyVariant Identifiers: chr4:g.100395446T>C (hg19) ; chr4:g.99474289T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99474289T>C , CM000666.2:g.99474289T>C	GRCh38
NC_000004.11:g.100395446T>C , CM000666.1:g.100395446T>C	GRCh37
NC_000004.10:g.100614469T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506494.1:n.243-2427A>G