Canonical Allele Identifier: CA792315758

Gene: CYP4V2

Linked Data

• dbSNP Id: rs1205814573
• gnomAD v4: 4-186191806-C-T
• MyVariant Identifiers: chr4:g.187112960C>T (hg19) ; chr4:g.186191806C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186191806C>T , CM000666.2:g.186191806C>T	GRCh38
NC_000004.11:g.187112960C>T , CM000666.1:g.187112960C>T	GRCh37
NC_000004.10:g.187349954C>T	NCBI36
NG_007965.1:g.5287C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378802.5:c.-18C>T MANE Select	ENSP00000368079.4:n.-18C>T
ENST00000378802.4:c.-18C>T	ENSP00000368079.4:n.-18C>T
NM_207352.3:c.-18C>T	NP_997235.3:n.-18C>T
XM_005262935.2:c.-18C>T	XP_005262992.1:n.-18C>T
XM_005262935.4:c.-18C>T	XP_005262992.1:n.-18C>T
XM_017008037.1:c.-328C>T	XP_016863526.1:n.-328C>T
NM_207352.4:c.-18C>T MANE Select	NP_997235.3:n.-18C>T