Canonical Allele Identifier: CA341284932
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1438974
ClinVar RCV Id: RCV001949121
dbSNP Id: rs1157937249
gnomAD v2: 1-94495069-T-C
gnomAD v3: 1-94029513-T-C
gnomAD v4: 1-94029513-T-C
MyVariant Identifiers: chr1:g.94495069T>C (hg19) chr1:g.94029513T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029513T>C , CM000663.2:g.94029513T>C GRCh38
NC_000001.10:g.94495069T>C , CM000663.1:g.94495069T>C GRCh37
NC_000001.9:g.94267657T>C NCBI36
NG_009073.1:g.96637A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4471A>G MANE Select ENSP00000359245.3:p.Ser1491Gly
ENST00000370225.3:c.4471A>G ENSP00000359245.3:p.Ser1491Gly
ENST00000536513.5:c.847A>G ENSP00000439707.2:p.Ser283Gly
NM_000350.2:c.4471A>G NP_000341.2:p.Ser1491Gly
NM_000350.3:c.4471A>G MANE Select NP_000341.2:p.Ser1491Gly
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