Canonical Allele Identifier: CA341285812

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94496039C>G (hg19) ; chr1:g.94030483C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030483C>G , CM000663.2:g.94030483C>G	GRCh38
NC_000001.10:g.94496039C>G , CM000663.1:g.94496039C>G	GRCh37
NC_000001.9:g.94268627C>G	NCBI36
NG_009073.1:g.95667G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4297G>C MANE Select	ENSP00000359245.3:p.Val1433Leu
ENST00000370225.3:c.4297G>C	ENSP00000359245.3:p.Val1433Leu
ENST00000536513.5:c.673G>C	ENSP00000439707.2:p.Val225Leu
NM_000350.2:c.4297G>C	NP_000341.2:p.Val1433Leu
NM_000350.3:c.4297G>C MANE Select	NP_000341.2:p.Val1433Leu