Canonical Allele Identifier: CA7841819
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs551691634
ExAC: 16:2376410 G / C
gnomAD v2: 16-2376410-G-C
gnomAD v3: 16-2326409-G-C
gnomAD v4: 16-2326409-G-C
MyVariant Identifiers: chr16:g.2376410G>C (hg19) chr16:g.2326409G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2326409G>C , CM000678.2:g.2326409G>C GRCh38
NC_000016.9:g.2376410G>C , CM000678.1:g.2376410G>C GRCh37
NC_000016.8:g.2316411G>C NCBI36
NG_011790.1:g.19338C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.54+4C>G MANE Select ENSP00000301732.5:n.54+4C>G
ENST00000301732.9:c.54+4C>G ENSP00000301732.5:n.54+4C>G
ENST00000382381.7:c.54+4C>G ENSP00000371818.3:n.54+4C>G
ENST00000563623.5:n.617+4C>G
ENST00000567910.1:c.54+4C>G ENSP00000454397.1:n.54+4C>G
NM_001089.2:c.54+4C>G NP_001080.2:n.54+4C>G
NM_001089.3:c.54+4C>G MANE Select NP_001080.2:n.54+4C>G
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