Canonical Allele Identifier: CA9162967

Gene: MUC16

Linked Data

• ClinVar Variation Id: 777411
• ClinVar RCV Id: RCV000957877 ; RCV003970790
• dbSNP Id: rs115933306
• ExAC: 19:8996460 A / C
• gnomAD v2: 19-8996460-A-C
• gnomAD v3: 19-8885784-A-C
• gnomAD v4: 19-8885784-A-C
• MyVariant Identifiers: chr19:g.8996460A>C (hg19) ; chr19:g.8885784A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.8885784A>C , CM000681.2:g.8885784A>C	GRCh38
NC_000019.9:g.8996460A>C , CM000681.1:g.8996460A>C	GRCh37
NC_000019.8:g.8857460A>C	NCBI36
NG_055257.1:g.129607T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710609.1:c.41232T>G	ENSP00000518375.1:p.Asp13744Glu
ENST00000710610.1:c.31938T>G	ENSP00000518376.1:p.Asp10646Glu
ENST00000711672.1:c.41298T>G	ENSP00000518832.1:p.Asp13766Glu
ENST00000397910.8:c.41112T>G	ENSP00000381008.2:p.Asp13704Glu
ENST00000596768.5:c.970T>G
ENST00000599436.1:c.1631T>G
ENST00000601404.5:c.1631T>G
NM_024690.2:c.41112T>G	NP_078966.2:p.Asp13704Glu
XM_017027486.1:c.40362T>G	XP_016882975.1:p.Asp13454Glu
XM_017027487.1:c.40296T>G	XP_016882976.1:p.Asp13432Glu
XM_017027488.1:c.40362T>G	XP_016882977.1:p.Asp13454Glu
XM_017027489.1:c.40242T>G	XP_016882978.1:p.Asp13414Glu
XM_017027490.1:c.39897T>G	XP_016882979.1:p.Asp13299Glu
XM_017027491.1:c.40260+952T>G	XP_016882980.1:n.40260+952T>G
XM_017027492.1:c.39894T>G	XP_016882981.1:p.Asp13298Glu
XM_017027493.1:c.39894T>G	XP_016882982.1:p.Asp13298Glu
XM_017027494.1:c.39894T>G	XP_016882983.1:p.Asp13298Glu
XM_017027495.1:c.39894T>G	XP_016882984.1:p.Asp13298Glu
XM_017027499.1:c.31149T>G	XP_016882988.1:p.Asp10383Glu
XM_017027500.1:c.31068T>G	XP_016882989.1:p.Asp10356Glu
XM_017027501.1:c.3036T>G	XP_016882990.1:p.Asp1012Glu