Canonical Allele Identifier: CA177730

Gene: RSPH4A

Linked Data

• ClinVar Variation Id: 165062
• ClinVar RCV Id: RCV000151748 ; RCV000311643 ; RCV001095099 ; RCV001706006
• dbSNP Id: rs9488991
• ExAC: 6:116951678 A / C
• gnomAD v2: 6-116951678-A-C
• gnomAD v3: 6-116630515-A-C
• gnomAD v4: 6-116630515-A-C
• MyVariant Identifiers: chr6:g.116951678A>C (hg19) ; chr6:g.116630515A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116630515A>C , CM000668.2:g.116630515A>C	GRCh38
NC_000006.11:g.116951678A>C , CM000668.1:g.116951678A>C	GRCh37
NC_000006.10:g.117058371A>C	NCBI36
NG_012934.1:g.19037A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229554.10:c.1879A>C MANE Select	ENSP00000229554.5:p.Asn627His
ENST00000229554.9:c.1879A>C	ENSP00000229554.5:p.Asn627His
ENST00000368580.4:c.1138A>C	ENSP00000357569.4:p.Asn380His
ENST00000368581.8:c.1743A>C	ENSP00000357570.4:p.Pro581=
NM_001010892.2:c.1879A>C	NP_001010892.1:p.Asn627His
NM_001161664.1:c.1743A>C	NP_001155136.1:p.Pro581=
XM_006715469.2:c.1839A>C	XP_006715532.1:p.Pro613=
XM_011535791.1:c.1879A>C	XP_011534093.1:p.Asn627His
XM_011535792.1:c.1879A>C	XP_011534094.1:p.Asn627His
XR_942416.1:n.4530A>C
XM_017010826.1:c.1743A>C	XP_016866315.1:p.Pro581=
NM_001010892.3:c.1879A>C MANE Select	NP_001010892.1:p.Asn627His
NM_001161664.2:c.1743A>C	NP_001155136.1:p.Pro581=