Canonical Allele Identifier: CA958392
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 3005448
ClinVar RCV Id: RCV003868575
dbSNP Id: rs202185371
ExAC: 1:94528116 G / A
gnomAD v2: 1-94528116-G-A
gnomAD v3: 1-94062560-G-A
gnomAD v4: 1-94062560-G-A
MyVariant Identifiers: chr1:g.94528116G>A (hg19) chr1:g.94062560G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062560G>A , CM000663.2:g.94062560G>A GRCh38
NC_000001.10:g.94528116G>A , CM000663.1:g.94528116G>A GRCh37
NC_000001.9:g.94300704G>A NCBI36
NG_009073.1:g.63590C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1937+17C>T MANE Select ENSP00000359245.3:n.1937+17C>T
ENST00000649773.1:c.1937+17C>T ENSP00000496882.1:n.1937+17C>T
ENST00000370225.3:c.1937+17C>T ENSP00000359245.3:n.1937+17C>T
ENST00000536513.5:c.-65+614C>T ENSP00000439707.2:n.-65+614C>T
NM_000350.2:c.1937+17C>T NP_000341.2:n.1937+17C>T
NM_000350.3:c.1937+17C>T MANE Select NP_000341.2:n.1937+17C>T
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