Canonical Allele Identifier: CA276790656
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs560384773
gnomAD v2: 16-2387224-T-C
gnomAD v3: 16-2337223-T-C
gnomAD v4: 16-2337223-T-C
MyVariant Identifiers: chr16:g.2387224T>C (hg19) chr16:g.2337223T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2337223T>C , CM000678.2:g.2337223T>C GRCh38
NC_000016.9:g.2387224T>C , CM000678.1:g.2387224T>C GRCh37
NC_000016.8:g.2327225T>C NCBI36
NG_011790.1:g.8524A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.-539+3350A>G MANE Select ENSP00000301732.5:n.-539+3350A>G
ENST00000301732.9:c.-539+3350A>G ENSP00000301732.5:n.-539+3350A>G
ENST00000382381.7:c.-539+3350A>G ENSP00000371818.3:n.-539+3350A>G
ENST00000563623.5:n.25+3350A>G
NM_001089.2:c.-539+3350A>G NP_001080.2:n.-539+3350A>G
NM_001089.3:c.-539+3350A>G MANE Select NP_001080.2:n.-539+3350A>G
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