Canonical Allele Identifier: CA341278832
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1315758729
gnomAD v2: 1-94526278-T-C
gnomAD v4: 1-94060722-T-C
MyVariant Identifiers: chr1:g.94526278T>C (hg19) chr1:g.94060722T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060722T>C , CM000663.2:g.94060722T>C GRCh38
NC_000001.10:g.94526278T>C , CM000663.1:g.94526278T>C GRCh37
NC_000001.9:g.94298866T>C NCBI36
NG_009073.1:g.65428A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1975A>G MANE Select ENSP00000359245.3:p.Met659Val
ENST00000649773.1:c.1975A>G ENSP00000496882.1:p.Met659Val
ENST00000370225.3:c.1975A>G ENSP00000359245.3:p.Met659Val
ENST00000472033.1:n.95A>G
ENST00000536513.5:c.-65+2452A>G ENSP00000439707.2:n.-65+2452A>G
NM_000350.2:c.1975A>G NP_000341.2:p.Met659Val
NM_000350.3:c.1975A>G MANE Select NP_000341.2:p.Met659Val
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