Canonical Allele Identifier: CA8241295

Gene: ANKRD11

Linked Data

• ClinVar Variation Id: 862455
• ClinVar RCV Id: RCV001069182 ; RCV002365776
• dbSNP Id: rs747911603
• ExAC: 16:89345839 C / A
• gnomAD v2: 16-89345839-C-A
• gnomAD v3: 16-89279431-C-A
• gnomAD v4: 16-89279431-C-A
• MyVariant Identifiers: chr16:g.89345839C>A (hg19) ; chr16:g.89279431C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89279431C>A , CM000678.2:g.89279431C>A	GRCh38
NC_000016.9:g.89345839C>A , CM000678.1:g.89345839C>A	GRCh37
NC_000016.8:g.87873340C>A	NCBI36
NG_032003.1:g.216131G>T
NG_032003.2:g.216131G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301030.10:c.7111G>T MANE Select	ENSP00000301030.4:p.Ala2371Ser
ENST00000330736.10:c.*6914G>T	ENSP00000330815.5:n.*6914G>T
ENST00000378330.7:c.7111G>T	ENSP00000367581.2:p.Ala2371Ser
ENST00000642600.1:c.7111G>T	ENSP00000495226.1:p.Ala2371Ser
ENST00000644285.1:c.745-4240G>T	ENSP00000496476.1:n.745-4240G>T
ENST00000301030.8:c.7111G>T	ENSP00000301030.4:p.Ala2371Ser
ENST00000330736.9:c.*6914G>T	ENSP00000330815.5:n.*6914G>T
ENST00000378330.6:c.7111G>T	ENSP00000367581.2:p.Ala2371Ser
ENST00000562194.1:c.152-4240G>T
ENST00000623388.1:n.286G>T
NM_001256182.1:c.7111G>T	NP_001243111.1:p.Ala2371Ser
NM_001256183.1:c.7111G>T	NP_001243112.1:p.Ala2371Ser
NM_013275.5:c.7111G>T	NP_037407.4:p.Ala2371Ser
XM_006721181.1:c.7009G>T	XP_006721244.1:p.Ala2337Ser
XM_006721184.2:c.6814G>T	XP_006721247.1:p.Ala2272Ser
XM_011523051.1:c.7111G>T	XP_011521353.1:p.Ala2371Ser
XM_011523052.1:c.7111G>T	XP_011521354.1:p.Ala2371Ser
XM_011523053.1:c.7111G>T	XP_011521355.1:p.Ala2371Ser
XM_011523054.1:c.7009G>T	XP_011521356.1:p.Ala2337Ser
XM_011523055.1:c.7009G>T	XP_011521357.1:p.Ala2337Ser
XM_011523056.1:c.6982G>T	XP_011521358.1:p.Ala2328Ser
XM_011523057.1:c.7111G>T	XP_011521359.1:p.Ala2371Ser
XM_011523051.3:c.7111G>T	XP_011521353.1:p.Ala2371Ser
XM_011523053.2:c.7111G>T	XP_011521355.1:p.Ala2371Ser
XM_011523054.2:c.7009G>T	XP_011521356.1:p.Ala2337Ser
XM_011523055.2:c.7009G>T	XP_011521357.1:p.Ala2337Ser
XM_011523056.2:c.6982G>T	XP_011521358.1:p.Ala2328Ser
XM_011523057.2:c.7111G>T	XP_011521359.1:p.Ala2371Ser
XM_017023182.2:c.7111G>T	XP_016878671.1:p.Ala2371Ser
XM_017023183.1:c.7111G>T	XP_016878672.1:p.Ala2371Ser
XM_017023184.1:c.7111G>T	XP_016878673.1:p.Ala2371Ser
XM_017023185.1:c.7111G>T	XP_016878674.1:p.Ala2371Ser
XM_017023186.1:c.7111G>T	XP_016878675.1:p.Ala2371Ser
XM_017023187.1:c.7111G>T	XP_016878676.1:p.Ala2371Ser
XM_024450244.1:c.7009G>T	XP_024306012.1:p.Ala2337Ser
NM_013275.6:c.7111G>T MANE Select	NP_037407.4:p.Ala2371Ser
NM_001256182.2:c.7111G>T	NP_001243111.1:p.Ala2371Ser
NM_001256183.2:c.7111G>T	NP_001243112.1:p.Ala2371Ser