Canonical Allele Identifier: CA524697587
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1172209444
gnomAD v2: 1-94528448-A-C
gnomAD v3: 1-94062892-A-C
gnomAD v4: 1-94062892-A-C
MyVariant Identifiers: chr1:g.94528448A>C (hg19) chr1:g.94062892A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062892A>C , CM000663.2:g.94062892A>C GRCh38
NC_000001.10:g.94528448A>C , CM000663.1:g.94528448A>C GRCh37
NC_000001.9:g.94301036A>C NCBI36
NG_009073.1:g.63258T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1761-139T>G MANE Select ENSP00000359245.3:n.1761-139T>G
ENST00000649773.1:c.1761-139T>G ENSP00000496882.1:n.1761-139T>G
ENST00000370225.3:c.1761-139T>G ENSP00000359245.3:n.1761-139T>G
ENST00000536513.5:c.-65+282T>G ENSP00000439707.2:n.-65+282T>G
NM_000350.2:c.1761-139T>G NP_000341.2:n.1761-139T>G
NM_000350.3:c.1761-139T>G MANE Select NP_000341.2:n.1761-139T>G
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