Canonical Allele Identifier: CA3162622

Gene: CYP4V2

Linked Data

• dbSNP Id: rs771363802
• ExAC: 4:187118792 TATTG / T
• gnomAD v2: 4-187118792-TATTG-T
• gnomAD v3: 4-186197638-TATTG-T
• gnomAD v4: 4-186197638-TATTG-T
• MyVariant Identifiers: chr4:g.187118793_187118796del (hg19) ; chr4:g.186197640_186197643del (hg38) ; chr4:g.186197639_186197642del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186197642_186197645del , CM000666.2:g.186197642_186197645del	GRCh38
NC_000004.11:g.187118796_187118799del , CM000666.1:g.187118796_187118799del	GRCh37
NC_000004.10:g.187355790_187355793del	NCBI36
NG_007965.1:g.11123_11126del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.674+40_674+43del MANE Select	ENSP00000368079.4:n.674+40_674+43del
ENST00000378802.4:c.674+40_674+43del	ENSP00000368079.4:n.674+40_674+43del
ENST00000507209.5:n.1515+40_1515+43del
NM_207352.3:c.674+40_674+43del	NP_997235.3:n.674+40_674+43del
XM_005262935.2:c.674+40_674+43del	XP_005262992.1:n.674+40_674+43del
XM_006714184.2:c.278+40_278+43del	XP_006714247.1:n.278+40_278+43del
XM_005262935.4:c.674+40_674+43del	XP_005262992.1:n.674+40_674+43del
XM_017008037.1:c.278+40_278+43del	XP_016863526.1:n.278+40_278+43del
NM_207352.4:c.674+40_674+43del MANE Select	NP_997235.3:n.674+40_674+43del