Canonical Allele Identifier: CA958623

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 298264
• ClinVar RCV Id: RCV000292103 ; RCV000326953 ; RCV000339971 ; RCV000383912 ; RCV000907632 ; RCV001075141 ; RCV004537688
• dbSNP Id: rs376624031
• ExAC: 1:94544962 G / A
• gnomAD v2: 1-94544962-G-A
• gnomAD v3: 1-94079406-G-A
• gnomAD v4: 1-94079406-G-A
• MyVariant Identifiers: chr1:g.94544962G>A (hg19) ; chr1:g.94079406G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94079406G>A , CM000663.2:g.94079406G>A	GRCh38
NC_000001.10:g.94544962G>A , CM000663.1:g.94544962G>A	GRCh37
NC_000001.9:g.94317550G>A	NCBI36
NG_009073.1:g.46744C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.1155C>T MANE Select	ENSP00000359245.3:p.Ile385=
ENST00000649773.1:c.1155C>T	ENSP00000496882.1:p.Ile385=
ENST00000370225.3:c.1155C>T	ENSP00000359245.3:p.Ile385=
NM_000350.2:c.1155C>T	NP_000341.2:p.Ile385=
NM_000350.3:c.1155C>T MANE Select	NP_000341.2:p.Ile385=