Canonical Allele Identifier: CA9170719

Gene: MUC16

Linked Data

• ClinVar Variation Id: 781401
• ClinVar RCV Id: RCV000962630
• dbSNP Id: rs115311327
• ExAC: 19:9073678 C / G
• gnomAD v2: 19-9073678-C-G
• gnomAD v3: 19-8963002-C-G
• gnomAD v4: 19-8963002-C-G
• MyVariant Identifiers: chr19:g.9073678C>G (hg19) ; chr19:g.8963002C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.8963002C>G , CM000681.2:g.8963002C>G	GRCh38
NC_000019.9:g.9073678C>G , CM000681.1:g.9073678C>G	GRCh37
NC_000019.8:g.8934678C>G	NCBI36
NG_055257.1:g.52389G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710609.1:c.13888G>C	ENSP00000518375.1:p.Asp4630His
ENST00000710610.1:c.4594G>C	ENSP00000518376.1:p.Asp1532His
ENST00000711672.1:c.13888G>C	ENSP00000518832.1:p.Asp4630His
ENST00000397910.8:c.13768G>C	ENSP00000381008.2:p.Asp4590His
NM_024690.2:c.13768G>C	NP_078966.2:p.Asp4590His
XM_017027486.1:c.13888G>C	XP_016882975.1:p.Asp4630His
XM_017027487.1:c.13888G>C	XP_016882976.1:p.Asp4630His
XM_017027488.1:c.13888G>C	XP_016882977.1:p.Asp4630His
XM_017027489.1:c.13768G>C	XP_016882978.1:p.Asp4590His
XM_017027490.1:c.13888G>C	XP_016882979.1:p.Asp4630His
XM_017027491.1:c.13888G>C	XP_016882980.1:p.Asp4630His
XM_017027492.1:c.13888G>C	XP_016882981.1:p.Asp4630His
XM_017027493.1:c.13888G>C	XP_016882982.1:p.Asp4630His
XM_017027494.1:c.13888G>C	XP_016882983.1:p.Asp4630His
XM_017027495.1:c.13888G>C	XP_016882984.1:p.Asp4630His
XM_017027499.1:c.4675G>C	XP_016882988.1:p.Asp1559His
XM_017027500.1:c.4594G>C	XP_016882989.1:p.Asp1532His