Canonical Allele Identifier: CA417756047
Gene: CYP4A11 HGNC NCBI

Linked Data

dbSNP Id: rs2148454123
MyVariant Identifiers: chr1:g.47398673T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46933001T>C , CM000663.2:g.46933001T>C GRCh38
NC_000001.10:g.47398673T>C , CM000663.1:g.47398673T>C GRCh37
NC_000001.9:g.47171260T>C NCBI36
NG_007932.1:g.13484A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000310638.9:c.1269A>G MANE Select ENSP00000311095.4:p.Lys423=
ENST00000310638.8:c.1269A>G ENSP00000311095.4:p.Lys423=
ENST00000371904.8:c.1272A>G ENSP00000360971.4:p.Lys424=
ENST00000371905.1:c.1269A>G ENSP00000360972.1:p.Lys423=
ENST00000462347.5:c.975A>G ENSP00000477495.1:p.Lys325=
ENST00000465874.5:c.*67A>G ENSP00000476368.1:n.*67A>G
ENST00000468629.5:c.1127-164A>G ENSP00000476619.1:n.1127-164A>G
ENST00000474458.5:c.743-164A>G ENSP00000476988.1:n.743-164A>G
ENST00000475477.5:c.*82-164A>G ENSP00000476854.1:n.*82-164A>G
NM_000778.3:c.1269A>G NP_000769.2:p.Lys423=
XM_005270539.1:c.975A>G XP_005270596.1:p.Lys325=
XM_011540826.1:c.1287A>G XP_011539128.1:p.Lys429=
XM_011540827.1:c.993A>G XP_011539129.1:p.Lys331=
XM_011540828.1:c.975A>G XP_011539130.1:p.Lys325=
XR_246241.1:n.1173A>G
XR_246242.1:n.1157A>G
NM_001319155.1:c.1173A>G NP_001306084.1:p.Lys391=
NM_001363587.1:c.975A>G NP_001350516.1:p.Lys325=
NR_134988.1:n.974A>G
NR_134989.1:n.1165A>G
NR_134990.1:n.1178-164A>G
NR_134991.1:n.1146A>G
NR_134992.1:n.794-164A>G
NR_134993.1:n.928-164A>G
NR_134994.1:n.1181A>G
XM_017000465.1:c.957A>G XP_016855954.1:p.Lys319=
XR_001737005.1:n.1266-164A>G
NM_000778.4:c.1269A>G MANE Select NP_000769.2:p.Lys423=
NM_001319155.2:c.1173A>G NP_001306084.1:p.Lys391=
NM_001363587.2:c.975A>G NP_001350516.1:p.Lys325=
NR_134988.2:n.966A>G
NR_134989.2:n.1157A>G
NR_134990.2:n.1170-164A>G
NR_134991.2:n.1138A>G
NR_134992.2:n.786-164A>G
NR_134993.2:n.920-164A>G
NR_134994.2:n.1173A>G