Canonical Allele Identifier: CA176756

Gene: MUC5B

Linked Data

• ClinVar Variation Id: 163996
• ClinVar RCV Id: RCV000151038 ; RCV001651013
• dbSNP Id: rs12421917
• ExAC: 11:1253401 C / G
• gnomAD v2: 11-1253401-C-G
• gnomAD v3: 11-1232171-C-G
• gnomAD v4: 11-1232171-C-G
• MyVariant Identifiers: chr11:g.1253401C>G (hg19) ; chr11:g.1232171C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1232171C>G , CM000673.2:g.1232171C>G	GRCh38
NC_000011.9:g.1253401C>G , CM000673.1:g.1253401C>G	GRCh37
NC_000011.8:g.1209977C>G	NCBI36
NG_031880.1:g.14107C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525715.5:n.1901+11C>G
ENST00000529681.5:c.1843+11C>G MANE Select	ENSP00000436812.1:n.1843+11C>G
NM_002458.2:c.1843+11C>G	NP_002449.2:n.1843+11C>G
NM_002458.3:c.1843+11C>G MANE Select	NP_002449.2:n.1843+11C>G