Canonical Allele Identifier: CA3970931
Gene: RSPH4A HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.116628058C>T
GRCh37 chr6:g.116949221C>T
gnomAD v2:
6:116949221 C / T
gnomAD v3:
6:116628058 C / T
gnomAD v4:
chr6-116628058-C-T
Joint Max Group AF 0.00004781 (NFE)
Genomes Max Group AF 0.00004765 (NFE)
Exomes Max Group AF 0.00004525 (NFE)
ClinVar RCV:
RCV000539991
RCV002497041
ClinVar Variation:
454520
dbSNP:
750528020
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.116628058C>T , CM000668.2:g.116628058C>T GRCh38
NC_000006.11:g.116949221C>T , CM000668.1:g.116949221C>T GRCh37
NC_000006.10:g.117055914C>T NCBI36
NG_012934.1:g.16580C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000229554.10:c.1351C>T MANE Select ENSP00000229554.5:p.Gln451Ter
ENST00000229554.9:c.1351C>T ENSP00000229554.5:p.Gln451Ter
ENST00000368580.4:c.922-1509C>T ENSP00000357569.4:n.922-1509C>T
ENST00000368581.8:c.1351C>T ENSP00000357570.4:p.Gln451Ter
NM_001010892.2:c.1351C>T NP_001010892.1:p.Gln451Ter
NM_001161664.1:c.1351C>T NP_001155136.1:p.Gln451Ter
XM_006715469.2:c.1351C>T XP_006715532.1:p.Gln451Ter
XM_011535791.1:c.1351C>T XP_011534093.1:p.Gln451Ter
XM_011535792.1:c.1351C>T XP_011534094.1:p.Gln451Ter
XR_942416.1:n.4002C>T
XM_017010826.1:c.1351C>T XP_016866315.1:p.Gln451Ter
NM_001010892.3:c.1351C>T MANE Select NP_001010892.1:p.Gln451Ter
NM_001161664.2:c.1351C>T NP_001155136.1:p.Gln451Ter
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