Canonical Allele Identifier: CA176754
Gene: MUC5B HGNC NCBI

Linked Data

ClinVar Variation Id: 163995
ClinVar RCV Id: RCV000151037 RCV001689695
dbSNP Id: rs2735709
ExAC: 11:1252708 G / C
gnomAD v2: 11-1252708-G-C
gnomAD v3: 11-1231478-G-C
gnomAD v4: 11-1231478-G-C
MyVariant Identifiers: chr11:g.1252708G>C (hg19) chr11:g.1231478G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1231478G>C , CM000673.2:g.1231478G>C GRCh38
NC_000011.9:g.1252708G>C , CM000673.1:g.1252708G>C GRCh37
NC_000011.8:g.1209284G>C NCBI36
NG_031880.1:g.13414G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000525715.5:n.1654G>C
ENST00000529681.5:c.1596G>C MANE Select ENSP00000436812.1:p.Leu532=
NM_002458.2:c.1596G>C NP_002449.2:p.Leu532=
NM_002458.3:c.1596G>C MANE Select NP_002449.2:p.Leu532=
Search 100 bp 5'
Search 100 bp 3'