Canonical Allele Identifier: CA957886

Gene: ABCA4

Linked Data

• ClinVar Variation Id: 298248
• ClinVar RCV Id: RCV000289560 ; RCV000293111 ; RCV000352695 ; RCV000388512 ; RCV001101856 ; RCV002059507
• dbSNP Id: rs374630957
• ExAC: 1:94505586 G / A
• gnomAD v2: 1-94505586-G-A
• gnomAD v3: 1-94040030-G-A
• gnomAD v4: 1-94040030-G-A
• MyVariant Identifiers: chr1:g.94505586G>A (hg19) ; chr1:g.94040030G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94040030G>A , CM000663.2:g.94040030G>A	GRCh38
NC_000001.10:g.94505586G>A , CM000663.1:g.94505586G>A	GRCh37
NC_000001.9:g.94278174G>A	NCBI36
NG_009073.1:g.86120C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.3607+13C>T MANE Select	ENSP00000359245.3:n.3607+13C>T
ENST00000370225.3:c.3607+13C>T	ENSP00000359245.3:n.3607+13C>T
ENST00000536513.5:c.-18+13C>T	ENSP00000439707.2:n.-18+13C>T
NM_000350.2:c.3607+13C>T	NP_000341.2:n.3607+13C>T
NM_000350.3:c.3607+13C>T MANE Select	NP_000341.2:n.3607+13C>T