Canonical Allele Identifier: CA837548407

Gene:

Linked Data

• dbSNP Id: rs1211664774
• gnomAD v3: 7-30911427-T-A
• gnomAD v4: 7-30911427-T-A
• MyVariant Identifiers: chr7:g.30951042T>A (hg19) ; chr7:g.30911427T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30911427T>A , CM000669.2:g.30911427T>A	GRCh38
NC_000007.13:g.30951042T>A , CM000669.1:g.30951042T>A	GRCh37
NC_000007.12:g.30917567T>A	NCBI36
NG_007475.2:g.63034T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000509504.2:c.622-566T>A