Canonical Allele Identifier: CA2646644799

Gene: ABCA4

Linked Data

• gnomAD v4: 1-93997812-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.93997812G>A , CM000663.2:g.93997812G>A	GRCh38
NC_000001.10:g.94463368G>A , CM000663.1:g.94463368G>A	GRCh37
NC_000001.9:g.94235956G>A	NCBI36
NG_009073.1:g.128338C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6729+49C>T MANE Select	ENSP00000359245.3:n.6729+49C>T
ENST00000370225.3:c.6729+49C>T	ENSP00000359245.3:n.6729+49C>T
ENST00000536513.5:c.3105+49C>T	ENSP00000439707.2:n.3105+49C>T
NM_000350.2:c.6729+49C>T	NP_000341.2:n.6729+49C>T
NM_000350.3:c.6729+49C>T MANE Select	NP_000341.2:n.6729+49C>T