Canonical Allele Identifier: CA7841771

Gene: ABCA3

Linked Data

• ClinVar Variation Id: 318576
• ClinVar RCV Id: RCV000288211 ; RCV000894058 ; RCV002392865 ; RCV003957647
• dbSNP Id: rs147278907
• ExAC: 16:2376170 C / T
• gnomAD v2: 16-2376170-C-T
• gnomAD v3: 16-2326169-C-T
• gnomAD v4: 16-2326169-C-T
• MyVariant Identifiers: chr16:g.2376170C>T (hg19) ; chr16:g.2326169C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2326169C>T , CM000678.2:g.2326169C>T	GRCh38
NC_000016.9:g.2376170C>T , CM000678.1:g.2376170C>T	GRCh37
NC_000016.8:g.2316171C>T	NCBI36
NG_011790.1:g.19578G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.160G>A MANE Select	ENSP00000301732.5:p.Ala54Thr
ENST00000301732.9:c.160G>A	ENSP00000301732.5:p.Ala54Thr
ENST00000382381.7:c.160G>A	ENSP00000371818.3:p.Ala54Thr
ENST00000563623.5:n.723G>A
ENST00000567910.1:c.160G>A	ENSP00000454397.1:p.Ala54Thr
NM_001089.2:c.160G>A	NP_001080.2:p.Ala54Thr
NM_001089.3:c.160G>A MANE Select	NP_001080.2:p.Ala54Thr