Canonical Allele Identifier: CA839290

Gene: CYP4A11

Linked Data

• dbSNP Id: rs772994318
• ExAC: 1:47398503 C / G
• gnomAD v2: 1-47398503-C-G
• gnomAD v3: 1-46932831-C-G
• gnomAD v4: 1-46932831-C-G
• MyVariant Identifiers: chr1:g.47398503C>G (hg19) ; chr1:g.46932831C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46932831C>G , CM000663.2:g.46932831C>G	GRCh38
NC_000001.10:g.47398503C>G , CM000663.1:g.47398503C>G	GRCh37
NC_000001.9:g.47171090C>G	NCBI36
NG_007932.1:g.13654G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000310638.9:c.1294G>C MANE Select	ENSP00000311095.4:p.Asp432His
ENST00000310638.8:c.1294G>C	ENSP00000311095.4:p.Asp432His
ENST00000371904.8:c.1297G>C	ENSP00000360971.4:p.Asp433His
ENST00000371905.1:c.1294G>C	ENSP00000360972.1:p.Asp432His
ENST00000462347.5:c.1000G>C	ENSP00000477495.1:p.Asp334His
ENST00000465874.5:c.*92G>C	ENSP00000476368.1:n.*92G>C
ENST00000468629.5:c.1133G>C	ENSP00000476619.1:p.Ter378Ser
ENST00000474458.5:c.749G>C	ENSP00000476988.1:p.Ter250Ser
ENST00000475477.5:c.*88G>C	ENSP00000476854.1:n.*88G>C
NM_000778.3:c.1294G>C	NP_000769.2:p.Asp432His
XM_005270539.1:c.1000G>C	XP_005270596.1:p.Asp334His
XM_011540826.1:c.1312G>C	XP_011539128.1:p.Asp438His
XM_011540827.1:c.1018G>C	XP_011539129.1:p.Asp340His
XM_011540828.1:c.1000G>C	XP_011539130.1:p.Asp334His
XR_246241.1:n.1198G>C
XR_246242.1:n.1182G>C
NM_001319155.1:c.1198G>C	NP_001306084.1:p.Asp400His
NM_001363587.1:c.1000G>C	NP_001350516.1:p.Asp334His
NR_134988.1:n.999G>C
NR_134989.1:n.1190G>C
NR_134990.1:n.1184G>C
NR_134991.1:n.1171G>C
NR_134992.1:n.800G>C
NR_134993.1:n.934G>C
NR_134994.1:n.1206G>C
XM_017000465.1:c.982G>C	XP_016855954.1:p.Asp328His
XR_001737005.1:n.1272G>C
NM_000778.4:c.1294G>C MANE Select	NP_000769.2:p.Asp432His
NM_001319155.2:c.1198G>C	NP_001306084.1:p.Asp400His
NM_001363587.2:c.1000G>C	NP_001350516.1:p.Asp334His
NR_134988.2:n.991G>C
NR_134989.2:n.1182G>C
NR_134990.2:n.1176G>C
NR_134991.2:n.1163G>C
NR_134992.2:n.792G>C
NR_134993.2:n.926G>C
NR_134994.2:n.1198G>C