Canonical Allele Identifier: CA9165977

Gene: MUC16

Linked Data

• ClinVar Variation Id: 781384
• ClinVar RCV Id: RCV000962613 ; RCV003970838
• dbSNP Id: rs61741223
• ExAC: 19:9045897 G / T
• gnomAD v2: 19-9045897-G-T
• gnomAD v3: 19-8935221-G-T
• gnomAD v4: 19-8935221-G-T
• MyVariant Identifiers: chr19:g.9045897G>T (hg19) ; chr19:g.8935221G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.8935221G>T , CM000681.2:g.8935221G>T	GRCh38
NC_000019.9:g.9045897G>T , CM000681.1:g.9045897G>T	GRCh37
NC_000019.8:g.8906897G>T	NCBI36
NG_055257.1:g.80170C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710609.1:c.35854C>A	ENSP00000518375.1:p.Pro11952Thr
ENST00000710610.1:c.26560C>A	ENSP00000518376.1:p.Pro8854Thr
ENST00000711672.1:c.35854C>A	ENSP00000518832.1:p.Pro11952Thr
ENST00000397910.8:c.35734C>A	ENSP00000381008.2:p.Pro11912Thr
NM_024690.2:c.35734C>A	NP_078966.2:p.Pro11912Thr
XM_017027486.1:c.35854C>A	XP_016882975.1:p.Pro11952Thr
XM_017027487.1:c.35854C>A	XP_016882976.1:p.Pro11952Thr
XM_017027488.1:c.35854C>A	XP_016882977.1:p.Pro11952Thr
XM_017027489.1:c.35734C>A	XP_016882978.1:p.Pro11912Thr
XM_017027490.1:c.35854C>A	XP_016882979.1:p.Pro11952Thr
XM_017027491.1:c.35854C>A	XP_016882980.1:p.Pro11952Thr
XM_017027492.1:c.35854C>A	XP_016882981.1:p.Pro11952Thr
XM_017027493.1:c.35854C>A	XP_016882982.1:p.Pro11952Thr
XM_017027494.1:c.35854C>A	XP_016882983.1:p.Pro11952Thr
XM_017027495.1:c.35854C>A	XP_016882984.1:p.Pro11952Thr
XM_017027499.1:c.26641C>A	XP_016882988.1:p.Pro8881Thr
XM_017027500.1:c.26560C>A	XP_016882989.1:p.Pro8854Thr