Canonical Allele Identifier: CA3162512

Gene: CYP4V2

Linked Data

• dbSNP Id: rs759029388
• ExAC: 4:187115802 G / T
• gnomAD v2: 4-187115802-G-T
• gnomAD v4: 4-186194648-G-T
• MyVariant Identifiers: chr4:g.187115802G>T (hg19) ; chr4:g.186194648G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186194648G>T , CM000666.2:g.186194648G>T	GRCh38
NC_000004.11:g.187115802G>T , CM000666.1:g.187115802G>T	GRCh37
NC_000004.10:g.187352796G>T	NCBI36
NG_007965.1:g.8129G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.327+36G>T MANE Select	ENSP00000368079.4:n.327+36G>T
ENST00000378802.4:c.327+36G>T	ENSP00000368079.4:n.327+36G>T
NM_207352.3:c.327+36G>T	NP_997235.3:n.327+36G>T
XM_005262935.2:c.327+36G>T	XP_005262992.1:n.327+36G>T
XM_006714184.2:c.17+36G>T	XP_006714247.1:n.17+36G>T
XM_005262935.4:c.327+36G>T	XP_005262992.1:n.327+36G>T
XM_017008037.1:c.17+36G>T	XP_016863526.1:n.17+36G>T
NM_207352.4:c.327+36G>T MANE Select	NP_997235.3:n.327+36G>T