Canonical Allele Identifier: CA957327
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1064072
ClinVar RCV Id: RCV001373991
dbSNP Id: rs760780770
ExAC: 1:94481298 T / C
gnomAD v2: 1-94481298-T-C
gnomAD v4: 1-94015742-T-C
MyVariant Identifiers: chr1:g.94481298T>C (hg19) chr1:g.94015742T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94015742T>C , CM000663.2:g.94015742T>C GRCh38
NC_000001.10:g.94481298T>C , CM000663.1:g.94481298T>C GRCh37
NC_000001.9:g.94253886T>C NCBI36
NG_009073.1:g.110408A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.5309A>G MANE Select ENSP00000359245.3:p.Tyr1770Cys
ENST00000370225.3:c.5309A>G ENSP00000359245.3:p.Tyr1770Cys
ENST00000536513.5:c.1685A>G ENSP00000439707.2:p.Tyr562Cys
NM_000350.2:c.5309A>G NP_000341.2:p.Tyr1770Cys
NM_000350.3:c.5309A>G MANE Select NP_000341.2:p.Tyr1770Cys
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