Canonical Allele Identifier: CA788849925

Gene:

Linked Data

• dbSNP Id: rs1343940345
• gnomAD v3: 4-148748256-T-C
• gnomAD v4: 4-148748256-T-C
• MyVariant Identifiers: chr4:g.149669408T>C (hg19) ; chr4:g.148748256T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.148748256T>C , CM000666.2:g.148748256T>C	GRCh38
NC_000004.11:g.149669408T>C , CM000666.1:g.149669408T>C	GRCh37
NC_000004.10:g.149888858T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001741441.1:n.1746-118501T>C