Canonical Allele Identifier: CA26868638
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs71652551
gnomAD v3: 1-94079246-C-T
gnomAD v4: 1-94079246-C-T
MyVariant Identifiers: chr1:g.94544802C>T (hg19) chr1:g.94079246C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94079246C>T , CM000663.2:g.94079246C>T GRCh38
NC_000001.10:g.94544802C>T , CM000663.1:g.94544802C>T GRCh37
NC_000001.9:g.94317390C>T NCBI36
NG_009073.1:g.46904G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.1239+76G>A MANE Select ENSP00000359245.3:n.1239+76G>A
ENST00000649773.1:c.1239+76G>A ENSP00000496882.1:n.1239+76G>A
ENST00000370225.3:c.1239+76G>A ENSP00000359245.3:n.1239+76G>A
NM_000350.2:c.1239+76G>A NP_000341.2:n.1239+76G>A
NM_000350.3:c.1239+76G>A MANE Select NP_000341.2:n.1239+76G>A
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