Canonical Allele Identifier: CA620708301
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs1435610870
gnomAD v2: 16-2328540-C-G
gnomAD v3: 16-2278539-C-G
gnomAD v4: 16-2278539-C-G
MyVariant Identifiers: chr16:g.2328540C>G (hg19) chr16:g.2278539C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2278539C>G , CM000678.2:g.2278539C>G GRCh38
NC_000016.9:g.2328540C>G , CM000678.1:g.2328540C>G GRCh37
NC_000016.8:g.2268541C>G NCBI36
NG_011790.1:g.67208G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.4548-81G>C MANE Select ENSP00000301732.5:n.4548-81G>C
ENST00000301732.9:c.4548-81G>C ENSP00000301732.5:n.4548-81G>C
ENST00000382381.7:c.4374-81G>C ENSP00000371818.3:n.4374-81G>C
ENST00000566200.1:n.1069-81G>C
NM_001089.2:c.4548-81G>C NP_001080.2:n.4548-81G>C
NM_001089.3:c.4548-81G>C MANE Select NP_001080.2:n.4548-81G>C
Search 100 bp 5'
Search 100 bp 3'