Canonical Allele Identifier: CA358946964
Gene: CYP4V2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186194578C>T , CM000666.2:g.186194578C>T GRCh38
NC_000004.11:g.187115732C>T , CM000666.1:g.187115732C>T GRCh37
NC_000004.10:g.187352726C>T NCBI36
NG_007965.1:g.8059C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378802.5:c.293C>T MANE Select ENSP00000368079.4:p.Pro98Leu
ENST00000378802.4:c.293C>T ENSP00000368079.4:p.Pro98Leu
NM_207352.3:c.293C>T NP_997235.3:p.Pro98Leu
XM_005262935.2:c.293C>T XP_005262992.1:p.Pro98Leu
XM_006714184.2:c.-18C>T XP_006714247.1:p.=
XM_005262935.4:c.293C>T XP_005262992.1:p.Pro98Leu
XM_017008037.1:c.-18C>T XP_016863526.1:p.=
NM_207352.4:c.293C>T MANE Select NP_997235.3:p.Pro98Leu