Canonical Allele Identifier: CA112125834

Gene: CYP4V2

Linked Data

• dbSNP Id: rs890337525
• gnomAD v2: 4-187119977-T-C
• gnomAD v3: 4-186198823-T-C
• gnomAD v4: 4-186198823-T-C
• MyVariant Identifiers: chr4:g.187119977T>C (hg19) ; chr4:g.186198823T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186198823T>C , CM000666.2:g.186198823T>C	GRCh38
NC_000004.11:g.187119977T>C , CM000666.1:g.187119977T>C	GRCh37
NC_000004.10:g.187356971T>C	NCBI36
NG_007965.1:g.12304T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.675-134T>C MANE Select	ENSP00000368079.4:n.675-134T>C
ENST00000378802.4:c.675-134T>C	ENSP00000368079.4:n.675-134T>C
ENST00000507209.5:n.1516-134T>C
NM_207352.3:c.675-134T>C	NP_997235.3:n.675-134T>C
XM_005262935.2:c.675-134T>C	XP_005262992.1:n.675-134T>C
XM_006714184.2:c.279-134T>C	XP_006714247.1:n.279-134T>C
XM_005262935.4:c.675-134T>C	XP_005262992.1:n.675-134T>C
XM_017008037.1:c.279-134T>C	XP_016863526.1:n.279-134T>C
NM_207352.4:c.675-134T>C MANE Select	NP_997235.3:n.675-134T>C