Canonical Allele Identifier: CA174516
Gene: MUC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 161643
ClinVar RCV Id: RCV000149179
dbSNP Id: rs148581741
ExAC: 11:1018419 G / A
gnomAD v2: 11-1018419-G-A
gnomAD v3: 11-1018419-G-A
gnomAD v4: 11-1018419-G-A
MyVariant Identifiers: chr11:g.1018419G>A (hg19) chr11:g.1018419G>A (hg38)
PubMed: PMID:23265383
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1018419G>A , CM000673.2:g.1018419G>A GRCh38
NC_000011.9:g.1018419G>A , CM000673.1:g.1018419G>A GRCh37
NC_000011.8:g.1008419G>A NCBI36
NG_052845.1:g.23288C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000421673.7:c.4382C>T MANE Select ENSP00000406861.2:p.Thr1461Ile
ENST00000421673.6:c.4382C>T ENSP00000406861.2:p.Thr1461Ile
NM_005961.2:c.4382C>T NP_005952.2:p.Thr1461Ile
NM_005961.3:c.4382C>T MANE Select NP_005952.2:p.Thr1461Ile
Search 100 bp 5'
Search 100 bp 3'