Canonical Allele Identifier: CA1004564268
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1083318
ClinVar RCV Id: RCV001399950
dbSNP Id: rs1662606961
gnomAD v3: 1-94111588-C-G
gnomAD v4: 1-94111588-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94111588C>G , CM000663.2:g.94111588C>G GRCh38
NC_000001.10:g.94577144C>G , CM000663.1:g.94577144C>G GRCh37
NC_000001.9:g.94349732C>G NCBI36
NG_009073.1:g.14562G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.161-9G>C MANE Select ENSP00000359245.3:n.161-9G>C
ENST00000649773.1:c.161-9G>C ENSP00000496882.1:n.161-9G>C
ENST00000370225.3:c.161-9G>C ENSP00000359245.3:n.161-9G>C
NM_000350.2:c.161-9G>C NP_000341.2:n.161-9G>C
NM_000350.3:c.161-9G>C MANE Select NP_000341.2:n.161-9G>C
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