Canonical Allele Identifier: CA796265746

Gene:

Linked Data

• dbSNP Id: rs1433700509
• gnomAD v3: 4-54228415-A-T
• gnomAD v4: 4-54228415-A-T
• MyVariant Identifiers: chr4:g.55094582A>T (hg19) ; chr4:g.54228415A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54228415A>T , CM000666.2:g.54228415A>T	GRCh38
NC_000004.11:g.55094582A>T , CM000666.1:g.55094582A>T	GRCh37
NC_000004.10:g.54789339A>T	NCBI36
NG_009250.1:g.4319A>T , LRG_309:g.4319A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507166.5:c.1018-46510A>T	ENSP00000423325.1:n.1018-46510A>T