Canonical Allele Identifier: CA341283678

Gene: ABCA4

Linked Data

• gnomAD v4: 1-94021697-C-G
• MyVariant Identifiers: chr1:g.94487253C>G (hg19) ; chr1:g.94021697C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94021697C>G , CM000663.2:g.94021697C>G	GRCh38
NC_000001.10:g.94487253C>G , CM000663.1:g.94487253C>G	GRCh37
NC_000001.9:g.94259841C>G	NCBI36
NG_009073.1:g.104453G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4791G>C MANE Select	ENSP00000359245.3:p.Glu1597Asp
ENST00000370225.3:c.4791G>C	ENSP00000359245.3:p.Glu1597Asp
ENST00000460514.1:n.285G>C
ENST00000536513.5:c.1167G>C	ENSP00000439707.2:p.Glu389Asp
NM_000350.2:c.4791G>C	NP_000341.2:p.Glu1597Asp
NM_000350.3:c.4791G>C MANE Select	NP_000341.2:p.Glu1597Asp