Canonical Allele Identifier: CA8242816

Gene: ANKRD11

Linked Data

• ClinVar Variation Id: 2647088
• ClinVar RCV Id: RCV003427996
• dbSNP Id: rs768137099
• ExAC: 16:89351666 G / A
• gnomAD v2: 16-89351666-G-A
• gnomAD v3: 16-89285258-G-A
• gnomAD v4: 16-89285258-G-A
• COSMIC: COSM6080273
• MyVariant Identifiers: chr16:g.89351666G>A (hg19) ; chr16:g.89285258G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89285258G>A , CM000678.2:g.89285258G>A	GRCh38
NC_000016.9:g.89351666G>A , CM000678.1:g.89351666G>A	GRCh37
NC_000016.8:g.87879167G>A	NCBI36
NG_032003.1:g.210304C>T
NG_032003.2:g.210304C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000301030.10:c.1284C>T MANE Select	ENSP00000301030.4:p.Leu428=
ENST00000330736.10:c.*1087C>T	ENSP00000330815.5:n.*1087C>T
ENST00000378330.7:c.1284C>T	ENSP00000367581.2:p.Leu428=
ENST00000568100.2:n.990C>T
ENST00000642443.1:c.909C>T	ENSP00000493644.1:p.Leu303=
ENST00000642600.1:c.1284C>T	ENSP00000495226.1:p.Leu428=
ENST00000644285.1:c.744+3270C>T	ENSP00000496476.1:n.744+3270C>T
ENST00000645212.1:n.3056C>T
ENST00000646345.1:n.1276C>T
ENST00000301030.8:c.1284C>T	ENSP00000301030.4:p.Leu428=
ENST00000330736.9:c.*1087C>T	ENSP00000330815.5:n.*1087C>T
ENST00000378330.6:c.1284C>T	ENSP00000367581.2:p.Leu428=
ENST00000562194.1:c.151+3270C>T
ENST00000568100.1:n.835C>T
ENST00000613312.4:c.*182C>T	ENSP00000478018.1:n.*182C>T
NM_001256182.1:c.1284C>T	NP_001243111.1:p.Leu428=
NM_001256183.1:c.1284C>T	NP_001243112.1:p.Leu428=
NM_013275.5:c.1284C>T	NP_037407.4:p.Leu428=
XM_006721181.1:c.1182C>T	XP_006721244.1:p.Leu394=
XM_006721184.2:c.987C>T	XP_006721247.1:p.Leu329=
XM_011523051.1:c.1284C>T	XP_011521353.1:p.Leu428=
XM_011523052.1:c.1284C>T	XP_011521354.1:p.Leu428=
XM_011523053.1:c.1284C>T	XP_011521355.1:p.Leu428=
XM_011523054.1:c.1182C>T	XP_011521356.1:p.Leu394=
XM_011523055.1:c.1182C>T	XP_011521357.1:p.Leu394=
XM_011523056.1:c.1155C>T	XP_011521358.1:p.Leu385=
XM_011523057.1:c.1284C>T	XP_011521359.1:p.Leu428=
XM_011523051.3:c.1284C>T	XP_011521353.1:p.Leu428=
XM_011523053.2:c.1284C>T	XP_011521355.1:p.Leu428=
XM_011523054.2:c.1182C>T	XP_011521356.1:p.Leu394=
XM_011523055.2:c.1182C>T	XP_011521357.1:p.Leu394=
XM_011523056.2:c.1155C>T	XP_011521358.1:p.Leu385=
XM_011523057.2:c.1284C>T	XP_011521359.1:p.Leu428=
XM_017023182.2:c.1284C>T	XP_016878671.1:p.Leu428=
XM_017023183.1:c.1284C>T	XP_016878672.1:p.Leu428=
XM_017023184.1:c.1284C>T	XP_016878673.1:p.Leu428=
XM_017023185.1:c.1284C>T	XP_016878674.1:p.Leu428=
XM_017023186.1:c.1284C>T	XP_016878675.1:p.Leu428=
XM_017023187.1:c.1284C>T	XP_016878676.1:p.Leu428=
XM_024450244.1:c.1182C>T	XP_024306012.1:p.Leu394=
NM_013275.6:c.1284C>T MANE Select	NP_037407.4:p.Leu428=
NM_001256182.2:c.1284C>T	NP_001243111.1:p.Leu428=
NM_001256183.2:c.1284C>T	NP_001243112.1:p.Leu428=