Canonical Allele Identifier: CA114616

Gene: CYP4F22

Linked Data

• ClinVar Variation Id: 909
• ClinVar RCV Id: RCV000000957 ; RCV000412942 ; RCV001582456
• dbSNP Id: rs118203935
• ExAC: 19:15659981 C / T
• gnomAD v2: 19-15659981-C-T
• gnomAD v3: 19-15549170-C-T
• gnomAD v4: 19-15549170-C-T
• MyVariant Identifiers: chr19:g.15659981C>T (hg19) ; chr19:g.15549170C>T (hg38)
• PubMed: PMID:16436457

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15549170C>T , CM000681.2:g.15549170C>T	GRCh38
NC_000019.9:g.15659981C>T , CM000681.1:g.15659981C>T	GRCh37
NC_000019.8:g.15520981C>T	NCBI36
NG_007987.1:g.45646C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269703.8:c.1303C>T MANE Select	ENSP00000269703.1:p.His435Tyr
ENST00000269703.7:c.1303C>T	ENSP00000269703.1:p.His435Tyr
ENST00000601005.2:c.1303C>T	ENSP00000469866.1:p.His435Tyr
NM_173483.3:c.1303C>T	NP_775754.2:p.His435Tyr
XM_011527692.1:c.1303C>T	XP_011525994.1:p.His435Tyr
XM_011527693.1:c.1303C>T	XP_011525995.1:p.His435Tyr
XM_011527692.2:c.1303C>T	XP_011525994.1:p.His435Tyr
XM_011527693.2:c.1303C>T	XP_011525995.1:p.His435Tyr
NM_173483.4:c.1303C>T MANE Select	NP_775754.2:p.His435Tyr