Canonical Allele Identifier: CA107997249

Gene:

Linked Data

• dbSNP Id: rs994008917
• gnomAD v2: 4-149669507-G-A
• gnomAD v3: 4-148748355-G-A
• gnomAD v4: 4-148748355-G-A
• MyVariant Identifiers: chr4:g.149669507G>A (hg19) ; chr4:g.148748355G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.148748355G>A , CM000666.2:g.148748355G>A	GRCh38
NC_000004.11:g.149669507G>A , CM000666.1:g.149669507G>A	GRCh37
NC_000004.10:g.149888957G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001741441.1:n.1746-118402G>A