Canonical Allele Identifier: CA957673

Gene: ABCA4

Linked Data

• dbSNP Id: rs760962520
• ExAC: 1:94496506 G / A
• gnomAD v2: 1-94496506-G-A
• gnomAD v3: 1-94030950-G-A
• gnomAD v4: 1-94030950-G-A
• MyVariant Identifiers: chr1:g.94496506G>A (hg19) ; chr1:g.94030950G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94030950G>A , CM000663.2:g.94030950G>A	GRCh38
NC_000001.10:g.94496506G>A , CM000663.1:g.94496506G>A	GRCh37
NC_000001.9:g.94269094G>A	NCBI36
NG_009073.1:g.95200C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370225.4:c.4253+46C>T MANE Select	ENSP00000359245.3:n.4253+46C>T
ENST00000370225.3:c.4253+46C>T	ENSP00000359245.3:n.4253+46C>T
ENST00000536513.5:c.629+46C>T	ENSP00000439707.2:n.629+46C>T
NM_000350.2:c.4253+46C>T	NP_000341.2:n.4253+46C>T
NM_000350.3:c.4253+46C>T MANE Select	NP_000341.2:n.4253+46C>T