Canonical Allele Identifier: CA5805296
Gene: MUC5B HGNC NCBI
ClinVar RCV:
RCV001655414
ClinVar Variation:
1251061
dbSNP:
2735733
gnomAD v2:
11:1261640 C / T
gnomAD v3:
11:1240410 C / T
gnomAD v4:
chr11-1240410-C-T
Joint Max Group AF 0.68638646 (EAS)
Genomes Max Group AF 0.64233099 (EAS)
Exomes Max Group AF 0.69019575 (EAS)
MyVariant.info:
GRCh38 chr11:g.1240410C>T
GRCh37 chr11:g.1261640C>T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1240410C>T , CM000673.2:g.1240410C>T GRCh38
NC_000011.9:g.1261640C>T , CM000673.1:g.1261640C>T GRCh37
NC_000011.8:g.1218216C>T NCBI36
NG_031880.1:g.22346C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000529681.5:c.3970+35C>T MANE Select ENSP00000436812.1:n.3970+35C>T
NM_002458.2:c.3970+35C>T NP_002449.2:n.3970+35C>T
NM_002458.3:c.3970+35C>T MANE Select NP_002449.2:n.3970+35C>T
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