Canonical Allele Identifier: CA7841243

Gene: ABCA3

Linked Data

• ClinVar Variation Id: 318543
• ClinVar RCV Id: RCV001007603 ; RCV002392863 ; RCV003417996
• dbSNP Id: rs150543946
• ExAC: 16:2353972 T / A
• gnomAD v2: 16-2353972-T-A
• gnomAD v3: 16-2303971-T-A
• gnomAD v4: 16-2303971-T-A
• MyVariant Identifiers: chr16:g.2353972T>A (hg19) ; chr16:g.2303971T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2303971T>A , CM000678.2:g.2303971T>A	GRCh38
NC_000016.9:g.2353972T>A , CM000678.1:g.2353972T>A	GRCh37
NC_000016.8:g.2293973T>A	NCBI36
NG_011790.1:g.41776A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301732.10:c.1465A>T MANE Select	ENSP00000301732.5:p.Met489Leu
ENST00000301732.9:c.1465A>T	ENSP00000301732.5:p.Met489Leu
ENST00000382381.7:c.1291A>T	ENSP00000371818.3:p.Met431Leu
ENST00000563623.5:n.2028A>T
NM_001089.2:c.1465A>T	NP_001080.2:p.Met489Leu
NM_001089.3:c.1465A>T MANE Select	NP_001080.2:p.Met489Leu