Canonical Allele Identifier: CA837548501

Gene:

Linked Data

• dbSNP Id: rs1440275742
• gnomAD v3: 7-30911534-C-T
• gnomAD v4: 7-30911534-C-T
• MyVariant Identifiers: chr7:g.30951149C>T (hg19) ; chr7:g.30911534C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30911534C>T , CM000669.2:g.30911534C>T	GRCh38
NC_000007.13:g.30951149C>T , CM000669.1:g.30951149C>T	GRCh37
NC_000007.12:g.30917674C>T	NCBI36
NG_007475.2:g.63141C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000509504.2:c.622-459C>T