Canonical Allele Identifier: CA26866411

Gene: ABCA4

Linked Data

• dbSNP Id: rs1016733348
• MyVariant Identifiers: chr1:g.94508994G>C (hg19) ; chr1:g.94043438G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94043438G>C , CM000663.2:g.94043438G>C	GRCh38
NC_000001.10:g.94508994G>C , CM000663.1:g.94508994G>C	GRCh37
NC_000001.9:g.94281582G>C	NCBI36
NG_009073.1:g.82712C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3088C>G MANE Select	ENSP00000359245.3:p.Leu1030Val
ENST00000370225.3:c.3088C>G	ENSP00000359245.3:p.Leu1030Val
ENST00000536513.5:c.-64-3349C>G	ENSP00000439707.2:n.-64-3349C>G
NM_000350.2:c.3088C>G	NP_000341.2:p.Leu1030Val
NM_000350.3:c.3088C>G MANE Select	NP_000341.2:p.Leu1030Val