Canonical Allele Identifier: CA341287072

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94497414G>C (hg19) ; chr1:g.94031858G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94031858G>C , CM000663.2:g.94031858G>C	GRCh38
NC_000001.10:g.94497414G>C , CM000663.1:g.94497414G>C	GRCh37
NC_000001.9:g.94270002G>C	NCBI36
NG_009073.1:g.94292C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.4048C>G MANE Select	ENSP00000359245.3:p.Leu1350Val
ENST00000370225.3:c.4048C>G	ENSP00000359245.3:p.Leu1350Val
ENST00000536513.5:c.424C>G	ENSP00000439707.2:p.Leu142Val
NM_000350.2:c.4048C>G	NP_000341.2:p.Leu1350Val
NM_000350.3:c.4048C>G MANE Select	NP_000341.2:p.Leu1350Val