Canonical Allele Identifier: CA26848136
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1501186
ClinVar RCV Id: RCV002042749
dbSNP Id: rs374931400
gnomAD v2: 1-94528227-C-G
gnomAD v3: 1-94062671-C-G
gnomAD v4: 1-94062671-C-G
MyVariant Identifiers: chr1:g.94528227C>G (hg19) chr1:g.94062671C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94062671C>G , CM000663.2:g.94062671C>G GRCh38
NC_000001.10:g.94528227C>G , CM000663.1:g.94528227C>G GRCh37
NC_000001.9:g.94300815C>G NCBI36
NG_009073.1:g.63479G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1843G>C MANE Select ENSP00000359245.3:p.Val615Leu
ENST00000649773.1:c.1843G>C ENSP00000496882.1:p.Val615Leu
ENST00000370225.3:c.1843G>C ENSP00000359245.3:p.Val615Leu
ENST00000536513.5:c.-65+503G>C ENSP00000439707.2:n.-65+503G>C
NM_000350.2:c.1843G>C NP_000341.2:p.Val615Leu
NM_000350.3:c.1843G>C MANE Select NP_000341.2:p.Val615Leu
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