Canonical Allele Identifier: CA276842854
Gene: ABCA3 HGNC NCBI

Linked Data

dbSNP Id: rs201379909
gnomAD v3: 16-2317584-G-C
gnomAD v4: 16-2317584-G-C
MyVariant Identifiers: chr16:g.2367585G>C (hg19) chr16:g.2317584G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2317584G>C , CM000678.2:g.2317584G>C GRCh38
NC_000016.9:g.2367585G>C , CM000678.1:g.2367585G>C GRCh37
NC_000016.8:g.2307586G>C NCBI36
NG_011790.1:g.28163C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301732.10:c.990+64C>G MANE Select ENSP00000301732.5:n.990+64C>G
ENST00000301732.9:c.990+64C>G ENSP00000301732.5:n.990+64C>G
ENST00000382381.7:c.990+64C>G ENSP00000371818.3:n.990+64C>G
ENST00000563623.5:n.1553+64C>G
NM_001089.2:c.990+64C>G NP_001080.2:n.990+64C>G
NM_001089.3:c.990+64C>G MANE Select NP_001080.2:n.990+64C>G
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