Canonical Allele Identifier: CA956994
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs769125527
ExAC: 1:94467514 G / C
gnomAD v2: 1-94467514-G-C
gnomAD v4: 1-94001958-G-C
MyVariant Identifiers: chr1:g.94467514G>C (hg19) chr1:g.94001958G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001958G>C , CM000663.2:g.94001958G>C GRCh38
NC_000001.10:g.94467514G>C , CM000663.1:g.94467514G>C GRCh37
NC_000001.9:g.94240102G>C NCBI36
NG_009073.1:g.124192C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6182C>G MANE Select ENSP00000359245.3:p.Thr2061Ser
ENST00000370225.3:c.6182C>G ENSP00000359245.3:p.Thr2061Ser
ENST00000465352.1:n.598C>G
ENST00000536513.5:c.2558C>G ENSP00000439707.2:p.Thr853Ser
NM_000350.2:c.6182C>G NP_000341.2:p.Thr2061Ser
NM_000350.3:c.6182C>G MANE Select NP_000341.2:p.Thr2061Ser
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