Canonical Allele Identifier: CA958373
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1136543
ClinVar RCV Id: RCV001472212
dbSNP Id: rs373643636
ExAC: 1:94526270 C / G
gnomAD v2: 1-94526270-C-G
gnomAD v3: 1-94060714-C-G
gnomAD v4: 1-94060714-C-G
MyVariant Identifiers: chr1:g.94526270C>G (hg19) chr1:g.94060714C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060714C>G , CM000663.2:g.94060714C>G GRCh38
NC_000001.10:g.94526270C>G , CM000663.1:g.94526270C>G GRCh37
NC_000001.9:g.94298858C>G NCBI36
NG_009073.1:g.65436G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1983G>C MANE Select ENSP00000359245.3:p.Leu661=
ENST00000649773.1:c.1983G>C ENSP00000496882.1:p.Leu661=
ENST00000370225.3:c.1983G>C ENSP00000359245.3:p.Leu661=
ENST00000472033.1:n.103G>C
ENST00000536513.5:c.-65+2460G>C ENSP00000439707.2:n.-65+2460G>C
NM_000350.2:c.1983G>C NP_000341.2:p.Leu661=
NM_000350.3:c.1983G>C MANE Select NP_000341.2:p.Leu661=
Search 100 bp 5'
Search 100 bp 3'