Canonical Allele Identifier: CA339821
Gene: RSPH4A HGNC NCBI

Linked Data

ClinVar Variation Id: 505
dbSNP Id: rs118204043
COSMIC: COSM216730

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.116628175C>T , CM000668.2:g.116628175C>T GRCh38
NC_000006.11:g.116949338C>T , CM000668.1:g.116949338C>T GRCh37
NC_000006.10:g.117056031C>T NCBI36
NG_012934.1:g.16697C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000229554.10:c.1468C>T MANE Select ENSP00000229554.5:p.Arg490Ter
ENST00000229554.9:c.1468C>T ENSP00000229554.5:p.Arg490Ter
ENST00000368580.4:c.922-1392C>T ENSP00000357569.4:n.922-1392C>T
ENST00000368581.8:c.1468C>T ENSP00000357570.4:p.Arg490Ter
NM_001010892.2:c.1468C>T NP_001010892.1:p.Arg490Ter
NM_001161664.1:c.1468C>T NP_001155136.1:p.Arg490Ter
XM_006715469.2:c.1468C>T XP_006715532.1:p.Arg490Ter
XM_011535791.1:c.1468C>T XP_011534093.1:p.Arg490Ter
XM_011535792.1:c.1468C>T XP_011534094.1:p.Arg490Ter
XR_942416.1:n.4119C>T
XM_017010826.1:c.1468C>T XP_016866315.1:p.Arg490Ter
NM_001010892.3:c.1468C>T MANE Select NP_001010892.1:p.Arg490Ter
NM_001161664.2:c.1468C>T NP_001155136.1:p.Arg490Ter