Canonical Allele Identifier: CA394306243
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs1189823641
gnomAD v3: 16-2278441-T-C
gnomAD v4: 16-2278441-T-C
MyVariant Identifiers: chr16:g.2328442T>C (hg19) chr16:g.2278441T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278441T>C , CM000678.2:g.2278441T>C GRCh38
NC_000016.9:g.2328442T>C , CM000678.1:g.2328442T>C GRCh37
NC_000016.8:g.2268443T>C NCBI36
NG_011790.1:g.67306A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4565A>G MANE Select ENSP00000301732.5:p.Lys1522Arg
ENST00000301732.9:c.4565A>G ENSP00000301732.5:p.Lys1522Arg
ENST00000382381.7:c.4391A>G ENSP00000371818.3:p.Lys1464Arg
ENST00000566200.1:n.1086A>G
NM_001089.2:c.4565A>G NP_001080.2:p.Lys1522Arg
NM_001089.3:c.4565A>G MANE Select NP_001080.2:p.Lys1522Arg
Search 100 bp 5'
Search 100 bp 3'