Canonical Allele Identifier: CA340223280

Gene: CYP4A11

Linked Data

• gnomAD v4: 1-46932991-T-C
• MyVariant Identifiers: chr1:g.47398663T>C (hg19) ; chr1:g.46932991T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46932991T>C , CM000663.2:g.46932991T>C	GRCh38
NC_000001.10:g.47398663T>C , CM000663.1:g.47398663T>C	GRCh37
NC_000001.9:g.47171250T>C	NCBI36
NG_007932.1:g.13494A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310638.9:c.1279A>G MANE Select	ENSP00000311095.4:p.Asn427Asp
ENST00000310638.8:c.1279A>G	ENSP00000311095.4:p.Asn427Asp
ENST00000371904.8:c.1282A>G	ENSP00000360971.4:p.Asn428Asp
ENST00000371905.1:c.1279A>G	ENSP00000360972.1:p.Asn427Asp
ENST00000462347.5:c.985A>G	ENSP00000477495.1:p.Asn329Asp
ENST00000465874.5:c.*77A>G	ENSP00000476368.1:n.*77A>G
ENST00000468629.5:c.1127-154A>G	ENSP00000476619.1:n.1127-154A>G
ENST00000474458.5:c.743-154A>G	ENSP00000476988.1:n.743-154A>G
ENST00000475477.5:c.*82-154A>G	ENSP00000476854.1:n.*82-154A>G
NM_000778.3:c.1279A>G	NP_000769.2:p.Asn427Asp
XM_005270539.1:c.985A>G	XP_005270596.1:p.Asn329Asp
XM_011540826.1:c.1297A>G	XP_011539128.1:p.Asn433Asp
XM_011540827.1:c.1003A>G	XP_011539129.1:p.Asn335Asp
XM_011540828.1:c.985A>G	XP_011539130.1:p.Asn329Asp
XR_246241.1:n.1183A>G
XR_246242.1:n.1167A>G
NM_001319155.1:c.1183A>G	NP_001306084.1:p.Asn395Asp
NM_001363587.1:c.985A>G	NP_001350516.1:p.Asn329Asp
NR_134988.1:n.984A>G
NR_134989.1:n.1175A>G
NR_134990.1:n.1178-154A>G
NR_134991.1:n.1156A>G
NR_134992.1:n.794-154A>G
NR_134993.1:n.928-154A>G
NR_134994.1:n.1191A>G
XM_017000465.1:c.967A>G	XP_016855954.1:p.Asn323Asp
XR_001737005.1:n.1266-154A>G
NM_000778.4:c.1279A>G MANE Select	NP_000769.2:p.Asn427Asp
NM_001319155.2:c.1183A>G	NP_001306084.1:p.Asn395Asp
NM_001363587.2:c.985A>G	NP_001350516.1:p.Asn329Asp
NR_134988.2:n.976A>G
NR_134989.2:n.1167A>G
NR_134990.2:n.1170-154A>G
NR_134991.2:n.1148A>G
NR_134992.2:n.786-154A>G
NR_134993.2:n.920-154A>G
NR_134994.2:n.1183A>G