Canonical Allele Identifier: CA107997248

Gene:

Linked Data

• dbSNP Id: rs10032216
• gnomAD v2: 4-149669506-T-C
• gnomAD v3: 4-148748354-T-C
• gnomAD v4: 4-148748354-T-C
• MyVariant Identifiers: chr4:g.149669506T>C (hg19) ; chr4:g.148748354T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.148748354T>C , CM000666.2:g.148748354T>C	GRCh38
NC_000004.11:g.149669506T>C , CM000666.1:g.149669506T>C	GRCh37
NC_000004.10:g.149888956T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001741441.1:n.1746-118403T>C