Canonical Allele Identifier: CA5808272
Gene: MUC5B HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.1250169C>T
GRCh37 chr11:g.1271399C>T
Revel Score:
ENST00000529681 (MANE Select) 0.073
ENST00000447027 0.073
ENST00000349637 0.073
ENST00000406844 0.073
ENST00000535652 0.073
gnomAD v2:
11:1271399 C / T
gnomAD v3:
11:1250169 C / T
gnomAD v4:
chr11-1250169-C-T
Joint Max Group AF 0.00024106 (EAS)
Genomes Max Group AF 0.00015854 (EAS)
Exomes Max Group AF 0.00023808 (MID)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1250169C>T , CM000673.2:g.1250169C>T GRCh38
NC_000011.9:g.1271399C>T , CM000673.1:g.1271399C>T GRCh37
NC_000011.8:g.1227975C>T NCBI36
NG_031880.1:g.32105C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000529681.5:c.13289C>T MANE Select ENSP00000436812.1:p.Thr4430Met
NM_002458.2:c.13289C>T NP_002449.2:p.Thr4430Met
NM_002458.3:c.13289C>T MANE Select NP_002449.2:p.Thr4430Met
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