Canonical Allele Identifier: CA551358257

Gene:

Linked Data

• gnomAD v2: 4-55094665-A-G
• MyVariant Identifiers: chr4:g.55094665A>G (hg19) ; chr4:g.54228498A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54228498A>G , CM000666.2:g.54228498A>G	GRCh38
NC_000004.11:g.55094665A>G , CM000666.1:g.55094665A>G	GRCh37
NC_000004.10:g.54789422A>G	NCBI36
NG_009250.1:g.4402A>G , LRG_309:g.4402A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507166.5:c.1018-46427A>G	ENSP00000423325.1:n.1018-46427A>G