Canonical Allele Identifier: CA1004553060
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1378250332
gnomAD v3: 1-94021027-A-G
gnomAD v4: 1-94021027-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021027A>G , CM000663.2:g.94021027A>G GRCh38
NC_000001.10:g.94486583A>G , CM000663.1:g.94486583A>G GRCh37
NC_000001.9:g.94259171A>G NCBI36
NG_009073.1:g.105123T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5018+213T>C MANE Select ENSP00000359245.3:n.5018+213T>C
ENST00000370225.3:c.5018+213T>C ENSP00000359245.3:n.5018+213T>C
ENST00000460514.1:n.512+213T>C
ENST00000470771.1:n.128+213T>C
ENST00000536513.5:c.1394+213T>C ENSP00000439707.2:n.1394+213T>C
NM_000350.2:c.5018+213T>C NP_000341.2:n.5018+213T>C
NM_000350.3:c.5018+213T>C MANE Select NP_000341.2:n.5018+213T>C
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