Canonical Allele Identifier: CA182800

Gene: ABCA3

Linked Data

• ClinVar Variation Id: 178695
• ClinVar RCV Id: RCV000155452 ; RCV000394710 ; RCV000895284 ; RCV002426749 ; RCV003917529
• dbSNP Id: rs138901284
• ExAC: 16:2347394 G / A
• gnomAD v2: 16-2347394-G-A
• gnomAD v3: 16-2297393-G-A
• gnomAD v4: 16-2297393-G-A
• MyVariant Identifiers: chr16:g.2347394G>A (hg19) ; chr16:g.2297393G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2297393G>A , CM000678.2:g.2297393G>A	GRCh38
NC_000016.9:g.2347394G>A , CM000678.1:g.2347394G>A	GRCh37
NC_000016.8:g.2287395G>A	NCBI36
NG_011790.1:g.48354C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.2199C>T MANE Select	ENSP00000301732.5:p.Ile733=
ENST00000301732.9:c.2199C>T	ENSP00000301732.5:p.Ile733=
ENST00000382381.7:c.2025C>T	ENSP00000371818.3:p.Ile675=
ENST00000563623.5:n.2762C>T
NM_001089.2:c.2199C>T	NP_001080.2:p.Ile733=
NM_001089.3:c.2199C>T MANE Select	NP_001080.2:p.Ile733=