Canonical Allele Identifier: CA4370379

Gene: CYP3A43

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.99861633C>T , CM000669.2:g.99861633C>T	GRCh38
NC_000007.13:g.99459256C>T , CM000669.1:g.99459256C>T	GRCh37
NC_000007.12:g.99297192C>T	NCBI36
NG_007935.1:g.38621C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354829.7:c.1047C>T MANE Select	ENSP00000346887.3:p.Ala349=
ENST00000222382.5:c.1047C>T	ENSP00000222382.5:p.Ala349=
ENST00000312017.9:c.1047C>T	ENSP00000312110.5:p.Ala349=
ENST00000342499.8:c.*346C>T	ENSP00000345351.5:n.*346C>T
ENST00000354829.6:c.1047C>T	ENSP00000346887.2:p.Ala349=
ENST00000415413.5:c.414C>T	ENSP00000401521.1:p.Ala138=
ENST00000417625.5:c.717C>T	ENSP00000416581.1:p.Ala239=
ENST00000433277.5:c.*609C>T	ENSP00000400316.1:n.*609C>T
ENST00000434806.5:c.1168C>T	ENSP00000411653.1:n.1168C>T
ENST00000436834.5:c.*733C>T	ENSP00000415221.1:n.*733C>T
ENST00000444905.5:c.288C>T	ENSP00000405557.1:p.Ala96=
ENST00000463915.5:n.299+1643C>T
ENST00000472352.1:n.480C>T
ENST00000477658.5:n.718C>T
ENST00000481362.5:n.1383C>T
ENST00000491648.5:n.515C>T
ENST00000495115.5:n.320C>T
NM_001278921.1:c.717C>T	NP_001265850.1:p.Ala239=
NM_022820.4:c.1047C>T	NP_073731.1:p.Ala349=
NM_057095.2:c.1047C>T	NP_476436.1:p.Ala349=
NM_057096.3:c.1047C>T	NP_476437.1:p.Ala349=
NR_103868.1:n.1007C>T
NR_103869.1:n.1271C>T
XM_011516493.1:c.1047C>T	XP_011514795.1:p.Ala349=
XM_011516494.1:c.627C>T	XP_011514796.1:p.Ala209=
XM_017012544.1:c.615C>T	XP_016868033.1:p.Ala205=
XM_017012545.1:c.615C>T	XP_016868034.1:p.Ala205=
XM_024446877.1:c.717C>T	XP_024302645.1:p.Ala239=
NM_001278921.2:c.717C>T	NP_001265850.1:p.Ala239=
NM_022820.5:c.1047C>T	NP_073731.1:p.Ala349=
NM_057095.3:c.1047C>T MANE Select	NP_476436.1:p.Ala349=
NM_057096.4:c.1047C>T	NP_476437.1:p.Ala349=
NR_103868.2:n.1007C>T
NR_103869.2:n.1271C>T