Canonical Allele Identifier: CA340223311

Gene: CYP4A11

Linked Data

• dbSNP Id: rs2148454166
• MyVariant Identifiers: chr1:g.47398679G>C (hg19) ; chr1:g.46933007G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46933007G>C , CM000663.2:g.46933007G>C	GRCh38
NC_000001.10:g.47398679G>C , CM000663.1:g.47398679G>C	GRCh37
NC_000001.9:g.47171266G>C	NCBI36
NG_007932.1:g.13478C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310638.9:c.1263C>G MANE Select	ENSP00000311095.4:p.Asn421Lys
ENST00000310638.8:c.1263C>G	ENSP00000311095.4:p.Asn421Lys
ENST00000371904.8:c.1266C>G	ENSP00000360971.4:p.Asn422Lys
ENST00000371905.1:c.1263C>G	ENSP00000360972.1:p.Asn421Lys
ENST00000462347.5:c.969C>G	ENSP00000477495.1:p.Asn323Lys
ENST00000465874.5:c.*61C>G	ENSP00000476368.1:n.*61C>G
ENST00000468629.5:c.1127-170C>G	ENSP00000476619.1:n.1127-170C>G
ENST00000474458.5:c.743-170C>G	ENSP00000476988.1:n.743-170C>G
ENST00000475477.5:c.*82-170C>G	ENSP00000476854.1:n.*82-170C>G
NM_000778.3:c.1263C>G	NP_000769.2:p.Asn421Lys
XM_005270539.1:c.969C>G	XP_005270596.1:p.Asn323Lys
XM_011540826.1:c.1281C>G	XP_011539128.1:p.Asn427Lys
XM_011540827.1:c.987C>G	XP_011539129.1:p.Asn329Lys
XM_011540828.1:c.969C>G	XP_011539130.1:p.Asn323Lys
XR_246241.1:n.1167C>G
XR_246242.1:n.1151C>G
NM_001319155.1:c.1167C>G	NP_001306084.1:p.Asn389Lys
NM_001363587.1:c.969C>G	NP_001350516.1:p.Asn323Lys
NR_134988.1:n.968C>G
NR_134989.1:n.1159C>G
NR_134990.1:n.1178-170C>G
NR_134991.1:n.1140C>G
NR_134992.1:n.794-170C>G
NR_134993.1:n.928-170C>G
NR_134994.1:n.1175C>G
XM_017000465.1:c.951C>G	XP_016855954.1:p.Asn317Lys
XR_001737005.1:n.1266-170C>G
NM_000778.4:c.1263C>G MANE Select	NP_000769.2:p.Asn421Lys
NM_001319155.2:c.1167C>G	NP_001306084.1:p.Asn389Lys
NM_001363587.2:c.969C>G	NP_001350516.1:p.Asn323Lys
NR_134988.2:n.960C>G
NR_134989.2:n.1151C>G
NR_134990.2:n.1170-170C>G
NR_134991.2:n.1132C>G
NR_134992.2:n.786-170C>G
NR_134993.2:n.920-170C>G
NR_134994.2:n.1167C>G