Canonical Allele Identifier: CA341276218

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94463416C>G (hg19) ; chr1:g.93997860C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.93997860C>G , CM000663.2:g.93997860C>G	GRCh38
NC_000001.10:g.94463416C>G , CM000663.1:g.94463416C>G	GRCh37
NC_000001.9:g.94236004C>G	NCBI36
NG_009073.1:g.128290G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6729+1G>C MANE Select	ENSP00000359245.3:n.6729+1G>C
ENST00000370225.3:c.6729+1G>C	ENSP00000359245.3:n.6729+1G>C
ENST00000536513.5:c.3105+1G>C	ENSP00000439707.2:n.3105+1G>C
NM_000350.2:c.6729+1G>C	NP_000341.2:n.6729+1G>C
NM_000350.3:c.6729+1G>C MANE Select	NP_000341.2:n.6729+1G>C