Canonical Allele Identifier: CA417755900

Gene: CYP4A11

Linked Data

• dbSNP Id: rs1557549101
• gnomAD v2: 1-47398498-A-G
• gnomAD v4: 1-46932826-A-G
• MyVariant Identifiers: chr1:g.47398498A>G (hg19) ; chr1:g.47398498_47398499delinsGG (hg19) ; chr1:g.46932826_46932827delinsGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46932826A>G , CM000663.2:g.46932826A>G	GRCh38
NC_000001.10:g.47398498A>G , CM000663.1:g.47398498A>G	GRCh37
NC_000001.9:g.47171085A>G	NCBI36
NG_007932.1:g.13659T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000310638.9:c.1299T>C MANE Select	ENSP00000311095.4:p.Pro433=
ENST00000310638.8:c.1299T>C	ENSP00000311095.4:p.Pro433=
ENST00000371904.8:c.1302T>C	ENSP00000360971.4:p.Pro434=
ENST00000371905.1:c.1299T>C	ENSP00000360972.1:p.Pro433=
ENST00000462347.5:c.1005T>C	ENSP00000477495.1:p.Pro335=
ENST00000465874.5:c.*97T>C	ENSP00000476368.1:n.*97T>C
ENST00000468629.5:c.*4T>C	ENSP00000476619.1:n.*4T>C
ENST00000474458.5:c.*4T>C	ENSP00000476988.1:n.*4T>C
ENST00000475477.5:c.*93T>C	ENSP00000476854.1:n.*93T>C
NM_000778.3:c.1299T>C	NP_000769.2:p.Pro433=
XM_005270539.1:c.1005T>C	XP_005270596.1:p.Pro335=
XM_011540826.1:c.1317T>C	XP_011539128.1:p.Pro439=
XM_011540827.1:c.1023T>C	XP_011539129.1:p.Pro341=
XM_011540828.1:c.1005T>C	XP_011539130.1:p.Pro335=
XR_246241.1:n.1203T>C
XR_246242.1:n.1187T>C
NM_001319155.1:c.1203T>C	NP_001306084.1:p.Pro401=
NM_001363587.1:c.1005T>C	NP_001350516.1:p.Pro335=
NR_134988.1:n.1004T>C
NR_134989.1:n.1195T>C
NR_134990.1:n.1189T>C
NR_134991.1:n.1176T>C
NR_134992.1:n.805T>C
NR_134993.1:n.939T>C
NR_134994.1:n.1211T>C
XM_017000465.1:c.987T>C	XP_016855954.1:p.Pro329=
XR_001737005.1:n.1277T>C
NM_000778.4:c.1299T>C MANE Select	NP_000769.2:p.Pro433=
NM_001319155.2:c.1203T>C	NP_001306084.1:p.Pro401=
NM_001363587.2:c.1005T>C	NP_001350516.1:p.Pro335=
NR_134988.2:n.996T>C
NR_134989.2:n.1187T>C
NR_134990.2:n.1181T>C
NR_134991.2:n.1168T>C
NR_134992.2:n.797T>C
NR_134993.2:n.931T>C
NR_134994.2:n.1203T>C