Canonical Allele Identifier: CA7840395

Gene: ABCA3

Linked Data

• ClinVar Variation Id: 318407
• ClinVar RCV Id: RCV000272311 ; RCV001556074 ; RCV002365372 ; RCV003922339
• dbSNP Id: rs35089233
• ExAC: 16:2334358 T / C
• gnomAD v2: 16-2334358-T-C
• gnomAD v3: 16-2284357-T-C
• gnomAD v4: 16-2284357-T-C
• MyVariant Identifiers: chr16:g.2334358T>C (hg19) ; chr16:g.2284357T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2284357T>C , CM000678.2:g.2284357T>C	GRCh38
NC_000016.9:g.2334358T>C , CM000678.1:g.2334358T>C	GRCh37
NC_000016.8:g.2274359T>C	NCBI36
NG_011790.1:g.61390A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.3784A>G MANE Select	ENSP00000301732.5:p.Ser1262Gly
ENST00000301732.9:c.3784A>G	ENSP00000301732.5:p.Ser1262Gly
ENST00000382381.7:c.3610A>G	ENSP00000371818.3:p.Ser1204Gly
NM_001089.2:c.3784A>G	NP_001080.2:p.Ser1262Gly
NM_001089.3:c.3784A>G MANE Select	NP_001080.2:p.Ser1262Gly