Canonical Allele Identifier: CA10611614
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 298222
ClinVar RCV Id: RCV000264727 RCV000280073 RCV000319805 RCV000374572 RCV001099678 RCV001380600
dbSNP Id: rs761867791
gnomAD v3: 1-94000899-C-G
gnomAD v4: 1-94000899-C-G
MyVariant Identifiers: chr1:g.94466455C>G (hg19) chr1:g.94000899C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94000899C>G , CM000663.2:g.94000899C>G GRCh38
NC_000001.10:g.94466455C>G , CM000663.1:g.94466455C>G GRCh37
NC_000001.9:g.94239043C>G NCBI36
NG_009073.1:g.125251G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6416G>C MANE Select ENSP00000359245.3:p.Arg2139Pro
ENST00000370225.3:c.6416G>C ENSP00000359245.3:p.Arg2139Pro
ENST00000536513.5:c.2792G>C ENSP00000439707.2:p.Arg931Pro
NM_000350.2:c.6416G>C NP_000341.2:p.Arg2139Pro
NM_000350.3:c.6416G>C MANE Select NP_000341.2:p.Arg2139Pro
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