Canonical Allele Identifier: CA957448
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs377631156
ExAC: 1:94486993 G / A
gnomAD v2: 1-94486993-G-A
gnomAD v3: 1-94021437-G-A
gnomAD v4: 1-94021437-G-A
MyVariant Identifiers: chr1:g.94486993G>A (hg19) chr1:g.94021437G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021437G>A , CM000663.2:g.94021437G>A GRCh38
NC_000001.10:g.94486993G>A , CM000663.1:g.94486993G>A GRCh37
NC_000001.9:g.94259581G>A NCBI36
NG_009073.1:g.104713C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4849-28C>T MANE Select ENSP00000359245.3:n.4849-28C>T
ENST00000370225.3:c.4849-28C>T ENSP00000359245.3:n.4849-28C>T
ENST00000460514.1:n.343-28C>T
ENST00000536513.5:c.1225-28C>T ENSP00000439707.2:n.1225-28C>T
NM_000350.2:c.4849-28C>T NP_000341.2:n.4849-28C>T
NM_000350.3:c.4849-28C>T MANE Select NP_000341.2:n.4849-28C>T
Search 100 bp 5'
Search 100 bp 3'