Canonical Allele Identifier: CA340223359

Gene: CYP4A11

Linked Data

• dbSNP Id: rs2148454278
• gnomAD v4: 1-46933029-G-A
• MyVariant Identifiers: chr1:g.47398701G>A (hg19) ; chr1:g.46933029G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46933029G>A , CM000663.2:g.46933029G>A	GRCh38
NC_000001.10:g.47398701G>A , CM000663.1:g.47398701G>A	GRCh37
NC_000001.9:g.47171288G>A	NCBI36
NG_007932.1:g.13456C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310638.9:c.1241C>T MANE Select	ENSP00000311095.4:p.Ser414Phe
ENST00000310638.8:c.1241C>T	ENSP00000311095.4:p.Ser414Phe
ENST00000371904.8:c.1244C>T	ENSP00000360971.4:p.Ser415Phe
ENST00000371905.1:c.1241C>T	ENSP00000360972.1:p.Ser414Phe
ENST00000462347.5:c.947C>T	ENSP00000477495.1:p.Ser316Phe
ENST00000465874.5:c.*39C>T	ENSP00000476368.1:n.*39C>T
ENST00000468629.5:c.1127-192C>T	ENSP00000476619.1:n.1127-192C>T
ENST00000474458.5:c.743-192C>T	ENSP00000476988.1:n.743-192C>T
ENST00000475477.5:c.*82-192C>T	ENSP00000476854.1:n.*82-192C>T
NM_000778.3:c.1241C>T	NP_000769.2:p.Ser414Phe
XM_005270539.1:c.947C>T	XP_005270596.1:p.Ser316Phe
XM_011540826.1:c.1259C>T	XP_011539128.1:p.Ser420Phe
XM_011540827.1:c.965C>T	XP_011539129.1:p.Ser322Phe
XM_011540828.1:c.947C>T	XP_011539130.1:p.Ser316Phe
XR_246241.1:n.1145C>T
XR_246242.1:n.1129C>T
NM_001319155.1:c.1145C>T	NP_001306084.1:p.Ser382Phe
NM_001363587.1:c.947C>T	NP_001350516.1:p.Ser316Phe
NR_134988.1:n.946C>T
NR_134989.1:n.1137C>T
NR_134990.1:n.1178-192C>T
NR_134991.1:n.1118C>T
NR_134992.1:n.794-192C>T
NR_134993.1:n.928-192C>T
NR_134994.1:n.1153C>T
XM_017000465.1:c.929C>T	XP_016855954.1:p.Ser310Phe
XR_001737005.1:n.1266-192C>T
NM_000778.4:c.1241C>T MANE Select	NP_000769.2:p.Ser414Phe
NM_001319155.2:c.1145C>T	NP_001306084.1:p.Ser382Phe
NM_001363587.2:c.947C>T	NP_001350516.1:p.Ser316Phe
NR_134988.2:n.938C>T
NR_134989.2:n.1129C>T
NR_134990.2:n.1170-192C>T
NR_134991.2:n.1110C>T
NR_134992.2:n.786-192C>T
NR_134993.2:n.920-192C>T
NR_134994.2:n.1145C>T