Canonical Allele Identifier: CA112131226

Gene: CYP4V2

Linked Data

• dbSNP Id: rs1029840960
• gnomAD v3: 4-186204793-C-T
• gnomAD v4: 4-186204793-C-T
• MyVariant Identifiers: chr4:g.187125947C>T (hg19) ; chr4:g.186204793C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186204793C>T , CM000666.2:g.186204793C>T	GRCh38
NC_000004.11:g.187125947C>T , CM000666.1:g.187125947C>T	GRCh37
NC_000004.10:g.187362941C>T	NCBI36
NG_007965.1:g.18274C>T
NG_012095.2:g.815C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.988-407C>T MANE Select	ENSP00000368079.4:n.988-407C>T
ENST00000378802.4:c.988-407C>T	ENSP00000368079.4:n.988-407C>T
ENST00000507209.5:n.5279C>T
ENST00000513354.5:n.77+336C>T
NM_207352.3:c.988-407C>T	NP_997235.3:n.988-407C>T
XM_005262935.2:c.988-407C>T	XP_005262992.1:n.988-407C>T
XM_006714184.2:c.592-407C>T	XP_006714247.1:n.592-407C>T
XM_005262935.4:c.988-407C>T	XP_005262992.1:n.988-407C>T
XM_017008037.1:c.592-407C>T	XP_016863526.1:n.592-407C>T
NM_207352.4:c.988-407C>T MANE Select	NP_997235.3:n.988-407C>T