Canonical Allele Identifier: CA9170097

Gene: MUC16

Linked Data

• ClinVar Variation Id: 781399
• ClinVar RCV Id: RCV000962628
• dbSNP Id: rs114448739
• ExAC: 19:9070720 A / C
• gnomAD v2: 19-9070720-A-C
• gnomAD v3: 19-8960044-A-C
• gnomAD v4: 19-8960044-A-C
• MyVariant Identifiers: chr19:g.9070720A>C (hg19) ; chr19:g.8960044A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.8960044A>C , CM000681.2:g.8960044A>C	GRCh38
NC_000019.9:g.9070720A>C , CM000681.1:g.9070720A>C	GRCh37
NC_000019.8:g.8931720A>C	NCBI36
NG_055257.1:g.55347T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710609.1:c.16846T>G	ENSP00000518375.1:p.Ser5616Ala
ENST00000710610.1:c.7552T>G	ENSP00000518376.1:p.Ser2518Ala
ENST00000711672.1:c.16846T>G	ENSP00000518832.1:p.Ser5616Ala
ENST00000397910.8:c.16726T>G	ENSP00000381008.2:p.Ser5576Ala
NM_024690.2:c.16726T>G	NP_078966.2:p.Ser5576Ala
XM_017027486.1:c.16846T>G	XP_016882975.1:p.Ser5616Ala
XM_017027487.1:c.16846T>G	XP_016882976.1:p.Ser5616Ala
XM_017027488.1:c.16846T>G	XP_016882977.1:p.Ser5616Ala
XM_017027489.1:c.16726T>G	XP_016882978.1:p.Ser5576Ala
XM_017027490.1:c.16846T>G	XP_016882979.1:p.Ser5616Ala
XM_017027491.1:c.16846T>G	XP_016882980.1:p.Ser5616Ala
XM_017027492.1:c.16846T>G	XP_016882981.1:p.Ser5616Ala
XM_017027493.1:c.16846T>G	XP_016882982.1:p.Ser5616Ala
XM_017027494.1:c.16846T>G	XP_016882983.1:p.Ser5616Ala
XM_017027495.1:c.16846T>G	XP_016882984.1:p.Ser5616Ala
XM_017027499.1:c.7633T>G	XP_016882988.1:p.Ser2545Ala
XM_017027500.1:c.7552T>G	XP_016882989.1:p.Ser2518Ala