Canonical Allele Identifier: CA341291943
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1424302918
gnomAD v3: 1-94042782-G-C
gnomAD v4: 1-94042782-G-C
MyVariant Identifiers: chr1:g.94508338G>C (hg19) chr1:g.94042782G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94042782G>C , CM000663.2:g.94042782G>C GRCh38
NC_000001.10:g.94508338G>C , CM000663.1:g.94508338G>C GRCh37
NC_000001.9:g.94280926G>C NCBI36
NG_009073.1:g.83368C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.3307C>G MANE Select ENSP00000359245.3:p.Leu1103Val
ENST00000370225.3:c.3307C>G ENSP00000359245.3:p.Leu1103Val
ENST00000536513.5:c.-64-2693C>G ENSP00000439707.2:n.-64-2693C>G
NM_000350.2:c.3307C>G NP_000341.2:p.Leu1103Val
NM_000350.3:c.3307C>G MANE Select NP_000341.2:p.Leu1103Val
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