Canonical Allele Identifier: CA2602488430

Gene:

Linked Data

• dbSNP Id: rs2110153057
• gnomAD v3: 4-99474356-A-T
• gnomAD v4: 4-99474356-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99474356A>T , CM000666.2:g.99474356A>T	GRCh38
NC_000004.11:g.100395513A>T , CM000666.1:g.100395513A>T	GRCh37
NC_000004.10:g.100614536A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506494.1:n.242+2392T>A