Canonical Allele Identifier: CA1099869664

Gene:

Linked Data

• dbSNP Id: rs1791160038
• gnomAD v3: 7-30911516-C-T
• gnomAD v4: 7-30911516-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30911516C>T , CM000669.2:g.30911516C>T	GRCh38
NC_000007.13:g.30951131C>T , CM000669.1:g.30951131C>T	GRCh37
NC_000007.12:g.30917656C>T	NCBI36
NG_007475.2:g.63123C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000509504.2:c.622-477C>T