Canonical Allele Identifier: CA16612098
Gene: RSPH4A HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.116627775G>A
GRCh37 chr6:g.116948938G>A
gnomAD v2:
6:116948938 G / A
gnomAD v4:
chr6-116627775-G-A
Joint Max Group AF 0.00000615 (NFE)
Exomes Max Group AF 0.00000652 (NFE)
ClinVar RCV:
RCV000473134
ClinVar Variation:
409228
dbSNP:
371374918
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.116627775G>A , CM000668.2:g.116627775G>A GRCh38
NC_000006.11:g.116948938G>A , CM000668.1:g.116948938G>A GRCh37
NC_000006.10:g.117055631G>A NCBI36
NG_012934.1:g.16297G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000229554.10:c.1068G>A MANE Select ENSP00000229554.5:p.Trp356Ter
ENST00000229554.9:c.1068G>A ENSP00000229554.5:p.Trp356Ter
ENST00000368580.4:c.922-1792G>A ENSP00000357569.4:n.922-1792G>A
ENST00000368581.8:c.1068G>A ENSP00000357570.4:p.Trp356Ter
NM_001010892.2:c.1068G>A NP_001010892.1:p.Trp356Ter
NM_001161664.1:c.1068G>A NP_001155136.1:p.Trp356Ter
XM_006715469.2:c.1068G>A XP_006715532.1:p.Trp356Ter
XM_011535791.1:c.1068G>A XP_011534093.1:p.Trp356Ter
XM_011535792.1:c.1068G>A XP_011534094.1:p.Trp356Ter
XR_942416.1:n.3719G>A
XM_017010826.1:c.1068G>A XP_016866315.1:p.Trp356Ter
NM_001010892.3:c.1068G>A MANE Select NP_001010892.1:p.Trp356Ter
NM_001161664.2:c.1068G>A NP_001155136.1:p.Trp356Ter
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