Canonical Allele Identifier: CA341285927
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1462908
ClinVar RCV Id: RCV001994935
dbSNP Id: rs2101035052
MyVariant Identifiers: chr1:g.94496072G>A (hg19) chr1:g.94030516G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94030516G>A , CM000663.2:g.94030516G>A GRCh38
NC_000001.10:g.94496072G>A , CM000663.1:g.94496072G>A GRCh37
NC_000001.9:g.94268660G>A NCBI36
NG_009073.1:g.95634C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4264C>T MANE Select ENSP00000359245.3:p.Pro1422Ser
ENST00000370225.3:c.4264C>T ENSP00000359245.3:p.Pro1422Ser
ENST00000536513.5:c.640C>T ENSP00000439707.2:p.Pro214Ser
NM_000350.2:c.4264C>T NP_000341.2:p.Pro1422Ser
NM_000350.3:c.4264C>T MANE Select NP_000341.2:p.Pro1422Ser
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Search 100 bp 3'