Canonical Allele Identifier: CA341283589
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1659900849
gnomAD v3: 1-94021656-G-C
gnomAD v4: 1-94021656-G-C
MyVariant Identifiers: chr1:g.94487212G>C (hg19) chr1:g.94021656G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021656G>C , CM000663.2:g.94021656G>C GRCh38
NC_000001.10:g.94487212G>C , CM000663.1:g.94487212G>C GRCh37
NC_000001.9:g.94259800G>C NCBI36
NG_009073.1:g.104494C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4832C>G MANE Select ENSP00000359245.3:p.Thr1611Ser
ENST00000370225.3:c.4832C>G ENSP00000359245.3:p.Thr1611Ser
ENST00000460514.1:n.326C>G
ENST00000536513.5:c.1208C>G ENSP00000439707.2:p.Thr403Ser
NM_000350.2:c.4832C>G NP_000341.2:p.Thr1611Ser
NM_000350.3:c.4832C>G MANE Select NP_000341.2:p.Thr1611Ser
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