Canonical Allele Identifier: CA340223275

Gene: CYP4A11

Linked Data

• gnomAD v4: 1-46932989-G-T
• COSMIC: COSM74319
• MyVariant Identifiers: chr1:g.47398661G>T (hg19) ; chr1:g.46932989G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46932989G>T , CM000663.2:g.46932989G>T	GRCh38
NC_000001.10:g.47398661G>T , CM000663.1:g.47398661G>T	GRCh37
NC_000001.9:g.47171248G>T	NCBI36
NG_007932.1:g.13496C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310638.9:c.1281C>A MANE Select	ENSP00000311095.4:p.Asn427Lys
ENST00000310638.8:c.1281C>A	ENSP00000311095.4:p.Asn427Lys
ENST00000371904.8:c.1284C>A	ENSP00000360971.4:p.Asn428Lys
ENST00000371905.1:c.1281C>A	ENSP00000360972.1:p.Asn427Lys
ENST00000462347.5:c.987C>A	ENSP00000477495.1:p.Asn329Lys
ENST00000465874.5:c.*79C>A	ENSP00000476368.1:n.*79C>A
ENST00000468629.5:c.1127-152C>A	ENSP00000476619.1:n.1127-152C>A
ENST00000474458.5:c.743-152C>A	ENSP00000476988.1:n.743-152C>A
ENST00000475477.5:c.*82-152C>A	ENSP00000476854.1:n.*82-152C>A
NM_000778.3:c.1281C>A	NP_000769.2:p.Asn427Lys
XM_005270539.1:c.987C>A	XP_005270596.1:p.Asn329Lys
XM_011540826.1:c.1299C>A	XP_011539128.1:p.Asn433Lys
XM_011540827.1:c.1005C>A	XP_011539129.1:p.Asn335Lys
XM_011540828.1:c.987C>A	XP_011539130.1:p.Asn329Lys
XR_246241.1:n.1185C>A
XR_246242.1:n.1169C>A
NM_001319155.1:c.1185C>A	NP_001306084.1:p.Asn395Lys
NM_001363587.1:c.987C>A	NP_001350516.1:p.Asn329Lys
NR_134988.1:n.986C>A
NR_134989.1:n.1177C>A
NR_134990.1:n.1178-152C>A
NR_134991.1:n.1158C>A
NR_134992.1:n.794-152C>A
NR_134993.1:n.928-152C>A
NR_134994.1:n.1193C>A
XM_017000465.1:c.969C>A	XP_016855954.1:p.Asn323Lys
XR_001737005.1:n.1266-152C>A
NM_000778.4:c.1281C>A MANE Select	NP_000769.2:p.Asn427Lys
NM_001319155.2:c.1185C>A	NP_001306084.1:p.Asn395Lys
NM_001363587.2:c.987C>A	NP_001350516.1:p.Asn329Lys
NR_134988.2:n.978C>A
NR_134989.2:n.1169C>A
NR_134990.2:n.1170-152C>A
NR_134991.2:n.1150C>A
NR_134992.2:n.786-152C>A
NR_134993.2:n.920-152C>A
NR_134994.2:n.1185C>A