Canonical Allele Identifier: CA839318

Gene: CYP4A11

Linked Data

• dbSNP Id: rs774827023
• ExAC: 1:47398672 C / G
• gnomAD v2: 1-47398672-C-G
• gnomAD v4: 1-46933000-C-G
• MyVariant Identifiers: chr1:g.47398672C>G (hg19) ; chr1:g.46933000C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46933000C>G , CM000663.2:g.46933000C>G	GRCh38
NC_000001.10:g.47398672C>G , CM000663.1:g.47398672C>G	GRCh37
NC_000001.9:g.47171259C>G	NCBI36
NG_007932.1:g.13485G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310638.9:c.1270G>C MANE Select	ENSP00000311095.4:p.Val424Leu
ENST00000310638.8:c.1270G>C	ENSP00000311095.4:p.Val424Leu
ENST00000371904.8:c.1273G>C	ENSP00000360971.4:p.Val425Leu
ENST00000371905.1:c.1270G>C	ENSP00000360972.1:p.Val424Leu
ENST00000462347.5:c.976G>C	ENSP00000477495.1:p.Val326Leu
ENST00000465874.5:c.*68G>C	ENSP00000476368.1:n.*68G>C
ENST00000468629.5:c.1127-163G>C	ENSP00000476619.1:n.1127-163G>C
ENST00000474458.5:c.743-163G>C	ENSP00000476988.1:n.743-163G>C
ENST00000475477.5:c.*82-163G>C	ENSP00000476854.1:n.*82-163G>C
NM_000778.3:c.1270G>C	NP_000769.2:p.Val424Leu
XM_005270539.1:c.976G>C	XP_005270596.1:p.Val326Leu
XM_011540826.1:c.1288G>C	XP_011539128.1:p.Val430Leu
XM_011540827.1:c.994G>C	XP_011539129.1:p.Val332Leu
XM_011540828.1:c.976G>C	XP_011539130.1:p.Val326Leu
XR_246241.1:n.1174G>C
XR_246242.1:n.1158G>C
NM_001319155.1:c.1174G>C	NP_001306084.1:p.Val392Leu
NM_001363587.1:c.976G>C	NP_001350516.1:p.Val326Leu
NR_134988.1:n.975G>C
NR_134989.1:n.1166G>C
NR_134990.1:n.1178-163G>C
NR_134991.1:n.1147G>C
NR_134992.1:n.794-163G>C
NR_134993.1:n.928-163G>C
NR_134994.1:n.1182G>C
XM_017000465.1:c.958G>C	XP_016855954.1:p.Val320Leu
XR_001737005.1:n.1266-163G>C
NM_000778.4:c.1270G>C MANE Select	NP_000769.2:p.Val424Leu
NM_001319155.2:c.1174G>C	NP_001306084.1:p.Val392Leu
NM_001363587.2:c.976G>C	NP_001350516.1:p.Val326Leu
NR_134988.2:n.967G>C
NR_134989.2:n.1158G>C
NR_134990.2:n.1170-163G>C
NR_134991.2:n.1139G>C
NR_134992.2:n.786-163G>C
NR_134993.2:n.920-163G>C
NR_134994.2:n.1174G>C