Canonical Allele Identifier: CA956988
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1636996
ClinVar RCV Id: RCV002135616
dbSNP Id: rs758795465
ExAC: 1:94467480 A / G
gnomAD v2: 1-94467480-A-G
gnomAD v3: 1-94001924-A-G
gnomAD v4: 1-94001924-A-G
MyVariant Identifiers: chr1:g.94467480A>G (hg19) chr1:g.94001924A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001924A>G , CM000663.2:g.94001924A>G GRCh38
NC_000001.10:g.94467480A>G , CM000663.1:g.94467480A>G GRCh37
NC_000001.9:g.94240068A>G NCBI36
NG_009073.1:g.124226T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6216T>C MANE Select ENSP00000359245.3:p.Ser2072=
ENST00000370225.3:c.6216T>C ENSP00000359245.3:p.Ser2072=
ENST00000465352.1:n.632T>C
ENST00000536513.5:c.2592T>C ENSP00000439707.2:p.Ser864=
NM_000350.2:c.6216T>C NP_000341.2:p.Ser2072=
NM_000350.3:c.6216T>C MANE Select NP_000341.2:p.Ser2072=
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