Canonical Allele Identifier: CA112137459

Gene: CYP4V2 KLKB1

Linked Data

• dbSNP Id: rs142737300
• gnomAD v3: 4-186211320-G-C
• gnomAD v4: 4-186211320-G-C
• MyVariant Identifiers: chr4:g.187132474G>C (hg19) ; chr4:g.186211320G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186211320G>C , CM000666.2:g.186211320G>C	GRCh38
NC_000004.11:g.187132474G>C , CM000666.1:g.187132474G>C	GRCh37
NC_000004.10:g.187369468G>C	NCBI36
NG_007965.1:g.24801G>C
NG_012095.2:g.7342G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.*679G>C (CYP4V2) MANE Select	ENSP00000368079.4:n.*679G>C
ENST00000502665.1:n.1492G>C (CYP4V2)
ENST00000507209.5:n.6955G>C (CYP4V2)
ENST00000511608.5:c.201+2048G>C (KLKB1)
NM_207352.3:c.*679G>C (CYP4V2)	NP_997235.3:n.*679G>C
XM_005262935.2:c.*679G>C (CYP4V2)	XP_005262992.1:n.*679G>C
XM_006714184.2:c.*679G>C (CYP4V2)	XP_006714247.1:n.*679G>C
XM_011531931.1:c.-3389G>C (KLKB1)	XP_011530233.1:n.-3389G>C
XM_011531932.1:c.-3639G>C (KLKB1)	XP_011530234.1:n.-3639G>C
XM_011531933.1:c.-3453G>C (KLKB1)	XP_011530235.1:n.-3453G>C
XM_005262935.4:c.*679G>C (CYP4V2)	XP_005262992.1:n.*679G>C
XM_017008037.1:c.*679G>C (CYP4V2)	XP_016863526.1:n.*679G>C
NM_207352.4:c.*679G>C (CYP4V2) MANE Select	NP_997235.3:n.*679G>C