Canonical Allele Identifier: CA397147947
Gene: ANKRD11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2957354
ClinVar RCV Id: RCV003819041
dbSNP Id: rs1336341769

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89275175G>A , CM000678.2:g.89275175G>A GRCh38
NC_000016.9:g.89341583G>A , CM000678.1:g.89341583G>A GRCh37
NC_000016.8:g.87869084G>A NCBI36
NG_032003.1:g.220387C>T
NG_032003.2:g.220387C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301030.10:c.7487C>T MANE Select ENSP00000301030.4:p.Ser2496Phe
ENST00000330736.10:c.*7290C>T ENSP00000330815.5:n.*7290C>T
ENST00000378330.7:c.7487C>T ENSP00000367581.2:p.Ser2496Phe
ENST00000642600.1:c.7487C>T ENSP00000495226.1:p.Ser2496Phe
ENST00000644285.1:c.761C>T ENSP00000496476.1:p.Ser254Phe
ENST00000301030.8:c.7487C>T ENSP00000301030.4:p.Ser2496Phe
ENST00000330736.9:c.*7290C>T ENSP00000330815.5:n.*7290C>T
ENST00000378330.6:c.7487C>T ENSP00000367581.2:p.Ser2496Phe
ENST00000562194.1:c.168C>T
NM_001256182.1:c.7487C>T NP_001243111.1:p.Ser2496Phe
NM_001256183.1:c.7487C>T NP_001243112.1:p.Ser2496Phe
NM_013275.5:c.7487C>T NP_037407.4:p.Ser2496Phe
XM_006721181.1:c.7385C>T XP_006721244.1:p.Ser2462Phe
XM_006721184.2:c.7190C>T XP_006721247.1:p.Ser2397Phe
XM_011523051.1:c.7487C>T XP_011521353.1:p.Ser2496Phe
XM_011523052.1:c.7487C>T XP_011521354.1:p.Ser2496Phe
XM_011523053.1:c.7487C>T XP_011521355.1:p.Ser2496Phe
XM_011523054.1:c.7385C>T XP_011521356.1:p.Ser2462Phe
XM_011523055.1:c.7385C>T XP_011521357.1:p.Ser2462Phe
XM_011523056.1:c.7358C>T XP_011521358.1:p.Ser2453Phe
XM_011523057.1:c.7487C>T XP_011521359.1:p.Ser2496Phe
XM_011523051.3:c.7487C>T XP_011521353.1:p.Ser2496Phe
XM_011523053.2:c.7487C>T XP_011521355.1:p.Ser2496Phe
XM_011523054.2:c.7385C>T XP_011521356.1:p.Ser2462Phe
XM_011523055.2:c.7385C>T XP_011521357.1:p.Ser2462Phe
XM_011523056.2:c.7358C>T XP_011521358.1:p.Ser2453Phe
XM_011523057.2:c.7487C>T XP_011521359.1:p.Ser2496Phe
XM_017023182.2:c.7487C>T XP_016878671.1:p.Ser2496Phe
XM_017023183.1:c.7487C>T XP_016878672.1:p.Ser2496Phe
XM_017023184.1:c.7487C>T XP_016878673.1:p.Ser2496Phe
XM_017023185.1:c.7487C>T XP_016878674.1:p.Ser2496Phe
XM_017023186.1:c.7487C>T XP_016878675.1:p.Ser2496Phe
XM_017023187.1:c.7487C>T XP_016878676.1:p.Ser2496Phe
XM_024450244.1:c.7385C>T XP_024306012.1:p.Ser2462Phe
NM_013275.6:c.7487C>T MANE Select NP_037407.4:p.Ser2496Phe
NM_001256182.2:c.7487C>T NP_001243111.1:p.Ser2496Phe
NM_001256183.2:c.7487C>T NP_001243112.1:p.Ser2496Phe