Canonical Allele Identifier: CA340223336

Gene: CYP4A11

Linked Data

• dbSNP Id: rs2148454213
• MyVariant Identifiers: chr1:g.47398689A>G (hg19) ; chr1:g.46933017A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46933017A>G , CM000663.2:g.46933017A>G	GRCh38
NC_000001.10:g.47398689A>G , CM000663.1:g.47398689A>G	GRCh37
NC_000001.9:g.47171276A>G	NCBI36
NG_007932.1:g.13468T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310638.9:c.1253T>C MANE Select	ENSP00000311095.4:p.Leu418Pro
ENST00000310638.8:c.1253T>C	ENSP00000311095.4:p.Leu418Pro
ENST00000371904.8:c.1256T>C	ENSP00000360971.4:p.Leu419Pro
ENST00000371905.1:c.1253T>C	ENSP00000360972.1:p.Leu418Pro
ENST00000462347.5:c.959T>C	ENSP00000477495.1:p.Leu320Pro
ENST00000465874.5:c.*51T>C	ENSP00000476368.1:n.*51T>C
ENST00000468629.5:c.1127-180T>C	ENSP00000476619.1:n.1127-180T>C
ENST00000474458.5:c.743-180T>C	ENSP00000476988.1:n.743-180T>C
ENST00000475477.5:c.*82-180T>C	ENSP00000476854.1:n.*82-180T>C
NM_000778.3:c.1253T>C	NP_000769.2:p.Leu418Pro
XM_005270539.1:c.959T>C	XP_005270596.1:p.Leu320Pro
XM_011540826.1:c.1271T>C	XP_011539128.1:p.Leu424Pro
XM_011540827.1:c.977T>C	XP_011539129.1:p.Leu326Pro
XM_011540828.1:c.959T>C	XP_011539130.1:p.Leu320Pro
XR_246241.1:n.1157T>C
XR_246242.1:n.1141T>C
NM_001319155.1:c.1157T>C	NP_001306084.1:p.Leu386Pro
NM_001363587.1:c.959T>C	NP_001350516.1:p.Leu320Pro
NR_134988.1:n.958T>C
NR_134989.1:n.1149T>C
NR_134990.1:n.1178-180T>C
NR_134991.1:n.1130T>C
NR_134992.1:n.794-180T>C
NR_134993.1:n.928-180T>C
NR_134994.1:n.1165T>C
XM_017000465.1:c.941T>C	XP_016855954.1:p.Leu314Pro
XR_001737005.1:n.1266-180T>C
NM_000778.4:c.1253T>C MANE Select	NP_000769.2:p.Leu418Pro
NM_001319155.2:c.1157T>C	NP_001306084.1:p.Leu386Pro
NM_001363587.2:c.959T>C	NP_001350516.1:p.Leu320Pro
NR_134988.2:n.950T>C
NR_134989.2:n.1141T>C
NR_134990.2:n.1170-180T>C
NR_134991.2:n.1122T>C
NR_134992.2:n.786-180T>C
NR_134993.2:n.920-180T>C
NR_134994.2:n.1157T>C