Canonical Allele Identifier: CA5160015

Gene: CAVIN4

Linked Data

• ClinVar Variation Id: 227557
• ClinVar RCV Id: RCV000218904 ; RCV001697245
• dbSNP Id: rs149165620
• ExAC: 9:103340668 T / G
• gnomAD v2: 9-103340668-T-G
• gnomAD v3: 9-100578386-T-G
• gnomAD v4: 9-100578386-T-G
• MyVariant Identifiers: chr9:g.103340668T>G (hg19) ; chr9:g.100578386T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.100578386T>G , CM000671.2:g.100578386T>G	GRCh38
NC_000009.11:g.103340668T>G , CM000671.1:g.103340668T>G	GRCh37
NC_000009.10:g.102380489T>G	NCBI36
NG_033273.1:g.5308T>G , LRG_760:g.5308T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307584.6:c.243T>G MANE Select	ENSP00000418668.1:p.Asn81Lys
ENST00000307584.5:c.243T>G	ENSP00000418668.1:p.Asn81Lys
NM_001018116.2:c.243T>G , LRG_760t1:c.243T>G MANE Select	NP_001018126.1:p.Asn81Lys
XM_011518631.1:c.219T>G	XP_011516933.1:p.Asn73Lys
XM_011518632.1:c.21+1431T>G	XP_011516934.1:n.21+1431T>G