Canonical Allele Identifier: CA9269745

Gene: CYP4F22

Linked Data

• ClinVar Variation Id: 1237473
• ClinVar RCV Id: RCV001635965 ; RCV001658351
• dbSNP Id: rs372183725
• ExAC: 19:15651548 AAT / A
• gnomAD v2: 19-15651548-AAT-A
• gnomAD v3: 19-15540737-AAT-A
• gnomAD v4: 19-15540737-AAT-A
• MyVariant Identifiers: chr19:g.15651549_15651550del (hg19) ; chr19:g.15651549_15651551delinsT (hg19) ; chr19:g.15540738_15540739del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.15540738_15540739del , CM000681.2:g.15540738_15540739del	GRCh38
NC_000019.9:g.15651549_15651550del , CM000681.1:g.15651549_15651550del	GRCh37
NC_000019.8:g.15512549_15512550del	NCBI36
NG_007987.1:g.37214_37215del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269703.8:c.939+21_939+22del MANE Select	ENSP00000269703.1:n.939+21_939+22del
ENST00000269703.7:c.939+21_939+22del	ENSP00000269703.1:n.939+21_939+22del
ENST00000601005.2:c.939+21_939+22del	ENSP00000469866.1:n.939+21_939+22del
NM_173483.3:c.939+21_939+22del	NP_775754.2:n.939+21_939+22del
XM_011527692.1:c.939+21_939+22del	XP_011525994.1:n.939+21_939+22del
XM_011527693.1:c.939+21_939+22del	XP_011525995.1:n.939+21_939+22del
XM_011527692.2:c.939+21_939+22del	XP_011525994.1:n.939+21_939+22del
XM_011527693.2:c.939+21_939+22del	XP_011525995.1:n.939+21_939+22del
NM_173483.4:c.939+21_939+22del MANE Select	NP_775754.2:n.939+21_939+22del