Canonical Allele Identifier: CA5806168

Gene: MUC5B MUC5B-AS1

Linked Data

• ClinVar Variation Id: 403142
• ClinVar RCV Id: RCV000455846 ; RCV001618696
• dbSNP Id: rs4963051
• ExAC: 11:1264965 G / A
• gnomAD v2: 11-1264965-G-A
• gnomAD v3: 11-1243735-G-A
• gnomAD v4: 11-1243735-G-A
• MyVariant Identifiers: chr11:g.1264965G>A (hg19) ; chr11:g.1243735G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1243735G>A , CM000673.2:g.1243735G>A	GRCh38
NC_000011.9:g.1264965G>A , CM000673.1:g.1264965G>A	GRCh37
NC_000011.8:g.1221541G>A	NCBI36
NG_031880.1:g.25671G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529681.5:c.6855G>A (MUC5B) MANE Select	ENSP00000436812.1:p.Thr2285=
NM_002458.2:c.6855G>A (MUC5B)	NP_002449.2:p.Thr2285=
NR_157183.1:n.57-1097C>T (MUC5B-AS1)
NM_002458.3:c.6855G>A (MUC5B) MANE Select	NP_002449.2:p.Thr2285=