Canonical Allele Identifier: CA340223179

Gene: CYP4A11

Linked Data

• dbSNP Id: rs1309565791
• gnomAD v2: 1-47398473-G-A
• gnomAD v4: 1-46932801-G-A
• MyVariant Identifiers: chr1:g.47398473G>A (hg19) ; chr1:g.46932801G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46932801G>A , CM000663.2:g.46932801G>A	GRCh38
NC_000001.10:g.47398473G>A , CM000663.1:g.47398473G>A	GRCh37
NC_000001.9:g.47171060G>A	NCBI36
NG_007932.1:g.13684C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310638.9:c.1324C>T MANE Select	ENSP00000311095.4:p.Gln442Ter
ENST00000310638.8:c.1324C>T	ENSP00000311095.4:p.Gln442Ter
ENST00000371904.8:c.1327C>T	ENSP00000360971.4:p.Gln443Ter
ENST00000371905.1:c.1324C>T	ENSP00000360972.1:p.Gln442Ter
ENST00000462347.5:c.1030C>T	ENSP00000477495.1:p.Gln344Ter
ENST00000465874.5:c.*122C>T	ENSP00000476368.1:n.*122C>T
ENST00000468629.5:c.*29C>T	ENSP00000476619.1:n.*29C>T
ENST00000474458.5:c.*29C>T	ENSP00000476988.1:n.*29C>T
ENST00000475477.5:c.*118C>T	ENSP00000476854.1:n.*118C>T
NM_000778.3:c.1324C>T	NP_000769.2:p.Gln442Ter
XM_005270539.1:c.1030C>T	XP_005270596.1:p.Gln344Ter
XM_011540826.1:c.1342C>T	XP_011539128.1:p.Gln448Ter
XM_011540827.1:c.1048C>T	XP_011539129.1:p.Gln350Ter
XM_011540828.1:c.1030C>T	XP_011539130.1:p.Gln344Ter
XR_246241.1:n.1228C>T
XR_246242.1:n.1212C>T
NM_001319155.1:c.1228C>T	NP_001306084.1:p.Gln410Ter
NM_001363587.1:c.1030C>T	NP_001350516.1:p.Gln344Ter
NR_134988.1:n.1029C>T
NR_134989.1:n.1220C>T
NR_134990.1:n.1214C>T
NR_134991.1:n.1201C>T
NR_134992.1:n.830C>T
NR_134993.1:n.964C>T
NR_134994.1:n.1236C>T
XM_017000465.1:c.1012C>T	XP_016855954.1:p.Gln338Ter
XR_001737005.1:n.1302C>T
NM_000778.4:c.1324C>T MANE Select	NP_000769.2:p.Gln442Ter
NM_001319155.2:c.1228C>T	NP_001306084.1:p.Gln410Ter
NM_001363587.2:c.1030C>T	NP_001350516.1:p.Gln344Ter
NR_134988.2:n.1021C>T
NR_134989.2:n.1212C>T
NR_134990.2:n.1206C>T
NR_134991.2:n.1193C>T
NR_134992.2:n.822C>T
NR_134993.2:n.956C>T
NR_134994.2:n.1228C>T