Canonical Allele Identifier: CA26846225
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs553627995
gnomAD v2: 1-94525992-C-A
gnomAD v3: 1-94060436-C-A
gnomAD v4: 1-94060436-C-A
MyVariant Identifiers: chr1:g.94525992C>A (hg19) chr1:g.94060436C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060436C>A , CM000663.2:g.94060436C>A GRCh38
NC_000001.10:g.94525992C>A , CM000663.1:g.94525992C>A GRCh37
NC_000001.9:g.94298580C>A NCBI36
NG_009073.1:g.65714G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2160+101G>T MANE Select ENSP00000359245.3:n.2160+101G>T
ENST00000649773.1:c.2160+101G>T ENSP00000496882.1:n.2160+101G>T
ENST00000370225.3:c.2160+101G>T ENSP00000359245.3:n.2160+101G>T
ENST00000472033.1:n.280+101G>T
ENST00000536513.5:c.-65+2738G>T ENSP00000439707.2:n.-65+2738G>T
NM_000350.2:c.2160+101G>T NP_000341.2:n.2160+101G>T
NM_000350.3:c.2160+101G>T MANE Select NP_000341.2:n.2160+101G>T
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