Canonical Allele Identifier: CA740454470
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1430638279
gnomAD v3: 1-94060415-T-G
gnomAD v4: 1-94060415-T-G
MyVariant Identifiers: chr1:g.94525971T>G (hg19) chr1:g.94060415T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060415T>G , CM000663.2:g.94060415T>G GRCh38
NC_000001.10:g.94525971T>G , CM000663.1:g.94525971T>G GRCh37
NC_000001.9:g.94298559T>G NCBI36
NG_009073.1:g.65735A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2160+122A>C MANE Select ENSP00000359245.3:n.2160+122A>C
ENST00000649773.1:c.2160+122A>C ENSP00000496882.1:n.2160+122A>C
ENST00000370225.3:c.2160+122A>C ENSP00000359245.3:n.2160+122A>C
ENST00000472033.1:n.280+122A>C
ENST00000536513.5:c.-65+2759A>C ENSP00000439707.2:n.-65+2759A>C
NM_000350.2:c.2160+122A>C NP_000341.2:n.2160+122A>C
NM_000350.3:c.2160+122A>C MANE Select NP_000341.2:n.2160+122A>C
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