Canonical Allele Identifier: CA1004544072
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1659207703
gnomAD v3: 1-94002132-C-G
gnomAD v4: 1-94002132-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94002132C>G , CM000663.2:g.94002132C>G GRCh38
NC_000001.10:g.94467688C>G , CM000663.1:g.94467688C>G GRCh37
NC_000001.9:g.94240276C>G NCBI36
NG_009073.1:g.124018G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6148-140G>C MANE Select ENSP00000359245.3:n.6148-140G>C
ENST00000370225.3:c.6148-140G>C ENSP00000359245.3:n.6148-140G>C
ENST00000465352.1:n.564-140G>C
ENST00000536513.5:c.2524-140G>C ENSP00000439707.2:n.2524-140G>C
NM_000350.2:c.6148-140G>C NP_000341.2:n.6148-140G>C
NM_000350.3:c.6148-140G>C MANE Select NP_000341.2:n.6148-140G>C
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