Canonical Allele Identifier: CA557053613

Gene: CYP4V2

Linked Data

• dbSNP Id: rs749271531
• gnomAD v2: 4-187118297-G-C
• gnomAD v3: 4-186197143-G-C
• gnomAD v4: 4-186197143-G-C
• MyVariant Identifiers: chr4:g.187118297G>C (hg19) ; chr4:g.186197143G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186197143G>C , CM000666.2:g.186197143G>C	GRCh38
NC_000004.11:g.187118297G>C , CM000666.1:g.187118297G>C	GRCh37
NC_000004.10:g.187355291G>C	NCBI36
NG_007965.1:g.10624G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.604+13G>C MANE Select	ENSP00000368079.4:n.604+13G>C
ENST00000378802.4:c.604+13G>C	ENSP00000368079.4:n.604+13G>C
ENST00000507209.5:n.1056G>C
NM_207352.3:c.604+13G>C	NP_997235.3:n.604+13G>C
XM_005262935.2:c.604+13G>C	XP_005262992.1:n.604+13G>C
XM_006714184.2:c.208+13G>C	XP_006714247.1:n.208+13G>C
XM_005262935.4:c.604+13G>C	XP_005262992.1:n.604+13G>C
XM_017008037.1:c.208+13G>C	XP_016863526.1:n.208+13G>C
NM_207352.4:c.604+13G>C MANE Select	NP_997235.3:n.604+13G>C