Canonical Allele Identifier: CA493124621
Gene: ABCA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2878855
ClinVar RCV Id: RCV003707905
dbSNP Id: rs2093661619
gnomAD v3: 16-2285511-C-A
gnomAD v4: 16-2285511-C-A
MyVariant Identifiers: chr16:g.2335512C>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2285511C>A , CM000678.2:g.2285511C>A GRCh38
NC_000016.9:g.2335512C>A , CM000678.1:g.2335512C>A GRCh37
NC_000016.8:g.2275513C>A NCBI36
NG_011790.1:g.60236G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000301732.10:c.3414G>T MANE Select ENSP00000301732.5:p.Val1138=
ENST00000301732.9:c.3414G>T ENSP00000301732.5:p.Val1138=
ENST00000382381.7:c.3240G>T ENSP00000371818.3:p.Val1080=
NM_001089.2:c.3414G>T NP_001080.2:p.Val1138=
NM_001089.3:c.3414G>T MANE Select NP_001080.2:p.Val1138=
Search 100 bp 5'
Search 100 bp 3'