Canonical Allele Identifier: CA341276395

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94463502A>C (hg19) ; chr1:g.93997946A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.93997946A>C , CM000663.2:g.93997946A>C	GRCh38
NC_000001.10:g.94463502A>C , CM000663.1:g.94463502A>C	GRCh37
NC_000001.9:g.94236090A>C	NCBI36
NG_009073.1:g.128204T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6644T>G MANE Select	ENSP00000359245.3:p.Leu2215Arg
ENST00000370225.3:c.6644T>G	ENSP00000359245.3:p.Leu2215Arg
ENST00000536513.5:c.3020T>G	ENSP00000439707.2:p.Leu1007Arg
NM_000350.2:c.6644T>G	NP_000341.2:p.Leu2215Arg
NM_000350.3:c.6644T>G MANE Select	NP_000341.2:p.Leu2215Arg