Canonical Allele Identifier: CA5808020

Gene: MUC5B MUC5B-AS1

Linked Data

• ClinVar Variation Id: 403172
• ClinVar RCV Id: RCV000454811 ; RCV001420689 ; RCV001613279
• dbSNP Id: rs185838223
• ExAC: 11:1270647 G / C
• gnomAD v2: 11-1270647-G-C
• gnomAD v3: 11-1249417-G-C
• gnomAD v4: 11-1249417-G-C
• MyVariant Identifiers: chr11:g.1270647G>C (hg19) ; chr11:g.1249417G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1249417G>C , CM000673.2:g.1249417G>C	GRCh38
NC_000011.9:g.1270647G>C , CM000673.1:g.1270647G>C	GRCh37
NC_000011.8:g.1227223G>C	NCBI36
NG_031880.1:g.31353G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529681.5:c.12537G>C (MUC5B) MANE Select	ENSP00000436812.1:p.Gln4179His
NM_002458.2:c.12537G>C (MUC5B)	NP_002449.2:p.Gln4179His
NR_157183.1:n.56+204C>G (MUC5B-AS1)
NM_002458.3:c.12537G>C (MUC5B) MANE Select	NP_002449.2:p.Gln4179His