Canonical Allele Identifier: CA340223273

Gene: CYP4A11

Linked Data

• dbSNP Id: rs2148454031
• gnomAD v4: 1-46932988-G-T
• MyVariant Identifiers: chr1:g.47398660G>T (hg19) ; chr1:g.46932988G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46932988G>T , CM000663.2:g.46932988G>T	GRCh38
NC_000001.10:g.47398660G>T , CM000663.1:g.47398660G>T	GRCh37
NC_000001.9:g.47171247G>T	NCBI36
NG_007932.1:g.13497C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310638.9:c.1282C>A MANE Select	ENSP00000311095.4:p.Pro428Thr
ENST00000310638.8:c.1282C>A	ENSP00000311095.4:p.Pro428Thr
ENST00000371904.8:c.1285C>A	ENSP00000360971.4:p.Pro429Thr
ENST00000371905.1:c.1282C>A	ENSP00000360972.1:p.Pro428Thr
ENST00000462347.5:c.988C>A	ENSP00000477495.1:p.Pro330Thr
ENST00000465874.5:c.*80C>A	ENSP00000476368.1:n.*80C>A
ENST00000468629.5:c.1127-151C>A	ENSP00000476619.1:n.1127-151C>A
ENST00000474458.5:c.743-151C>A	ENSP00000476988.1:n.743-151C>A
ENST00000475477.5:c.*82-151C>A	ENSP00000476854.1:n.*82-151C>A
NM_000778.3:c.1282C>A	NP_000769.2:p.Pro428Thr
XM_005270539.1:c.988C>A	XP_005270596.1:p.Pro330Thr
XM_011540826.1:c.1300C>A	XP_011539128.1:p.Pro434Thr
XM_011540827.1:c.1006C>A	XP_011539129.1:p.Pro336Thr
XM_011540828.1:c.988C>A	XP_011539130.1:p.Pro330Thr
XR_246241.1:n.1186C>A
XR_246242.1:n.1170C>A
NM_001319155.1:c.1186C>A	NP_001306084.1:p.Pro396Thr
NM_001363587.1:c.988C>A	NP_001350516.1:p.Pro330Thr
NR_134988.1:n.987C>A
NR_134989.1:n.1178C>A
NR_134990.1:n.1178-151C>A
NR_134991.1:n.1159C>A
NR_134992.1:n.794-151C>A
NR_134993.1:n.928-151C>A
NR_134994.1:n.1194C>A
XM_017000465.1:c.970C>A	XP_016855954.1:p.Pro324Thr
XR_001737005.1:n.1266-151C>A
NM_000778.4:c.1282C>A MANE Select	NP_000769.2:p.Pro428Thr
NM_001319155.2:c.1186C>A	NP_001306084.1:p.Pro396Thr
NM_001363587.2:c.988C>A	NP_001350516.1:p.Pro330Thr
NR_134988.2:n.979C>A
NR_134989.2:n.1170C>A
NR_134990.2:n.1170-151C>A
NR_134991.2:n.1151C>A
NR_134992.2:n.786-151C>A
NR_134993.2:n.920-151C>A
NR_134994.2:n.1186C>A