Canonical Allele Identifier: CA341276255
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1216715608
gnomAD v2: 1-94463434-G-C
gnomAD v4: 1-93997878-G-C
MyVariant Identifiers: chr1:g.94463434G>C (hg19) chr1:g.93997878G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997878G>C , CM000663.2:g.93997878G>C GRCh38
NC_000001.10:g.94463434G>C , CM000663.1:g.94463434G>C GRCh37
NC_000001.9:g.94236022G>C NCBI36
NG_009073.1:g.128272C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6712C>G MANE Select ENSP00000359245.3:p.Gln2238Glu
ENST00000370225.3:c.6712C>G ENSP00000359245.3:p.Gln2238Glu
ENST00000536513.5:c.3088C>G ENSP00000439707.2:p.Gln1030Glu
NM_000350.2:c.6712C>G NP_000341.2:p.Gln2238Glu
NM_000350.3:c.6712C>G MANE Select NP_000341.2:p.Gln2238Glu
Search 100 bp 5'
Search 100 bp 3'