Canonical Allele Identifier: CA357836039

Gene: HADH

Linked Data

• COSMIC: COSM6311823 ; COSM6311824
• MyVariant Identifiers: chr4:g.108948914G>T (hg19) ; chr4:g.108027758G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027758G>T , CM000666.2:g.108027758G>T	GRCh38
NC_000004.11:g.108948914G>T , CM000666.1:g.108948914G>T	GRCh37
NC_000004.10:g.109168363G>T	NCBI36
NG_008156.2:g.42975G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.4917G>T
ENST00000510728.6:n.1695G>T
ENST00000514776.3:n.140G>T
ENST00000515462.7:n.1894G>T
ENST00000626637.2:c.719G>T	ENSP00000486771.1:p.Arg240Leu
ENST00000638648.2:c.719G>T	ENSP00000507949.1:p.Arg240Leu
ENST00000640201.2:n.793G>T
ENST00000640752.2:n.4917G>T
ENST00000682067.1:c.540G>T
ENST00000682086.1:n.776G>T
ENST00000682373.1:c.366G>T
ENST00000684696.1:c.637-181G>T	ENSP00000507675.1:n.637-181G>T
ENST00000309522.8:c.707G>T MANE Select	ENSP00000312288.4:p.Arg236Leu
ENST00000403312.6:c.707G>T	ENSP00000385638.3:p.Arg236Leu
ENST00000505878.4:c.884G>T	ENSP00000425952.2:p.Arg295Leu
ENST00000514776.2:n.140G>T
ENST00000515462.6:n.1894G>T
ENST00000638559.1:c.565G>T
ENST00000638621.1:c.293G>T	ENSP00000491581.1:p.Arg98Leu
ENST00000638648.1:n.858G>T
ENST00000639146.1:c.707G>T	ENSP00000492345.1:p.Arg236Leu
ENST00000639335.1:c.*142G>T	ENSP00000491310.1:n.*142G>T
ENST00000639698.1:c.516+4195G>T	ENSP00000492420.1:n.516+4195G>T
ENST00000639784.1:c.373+4195G>T
ENST00000640048.1:c.679G>T	ENSP00000492009.1:n.679G>T
ENST00000640060.1:c.*802G>T	ENSP00000492734.1:n.*802G>T
ENST00000640201.1:n.662G>T
ENST00000640752.1:n.4910G>T
ENST00000309522.7:c.707G>T	ENSP00000312288.3:p.Arg236Leu
ENST00000403312.5:c.884G>T	ENSP00000385638.2:p.Arg295Leu
ENST00000505878.3:c.719G>T	ENSP00000425952.1:p.Arg240Leu
ENST00000507260.1:n.407G>T
ENST00000510728.5:n.247G>T
ENST00000515462.5:n.44G>T
ENST00000603302.5:c.707G>T	ENSP00000474560.1:p.Arg236Leu
ENST00000626637.1:c.719G>T	ENSP00000486771.1:p.Arg240Leu
NM_001184705.2:c.707G>T	NP_001171634.2:p.Arg236Leu
NM_005327.4:c.707G>T	NP_005318.3:p.Arg236Leu
XM_005262972.1:c.719G>T	XP_005263029.1:p.Arg240Leu
XR_938726.1:n.856G>T
NM_001331027.1:c.719G>T	NP_001317956.1:p.Arg240Leu
XR_001741214.2:n.801G>T
XR_002959727.1:n.801G>T
NM_001184705.3:c.707G>T	NP_001171634.2:p.Arg236Leu
NM_005327.7:c.707G>T MANE Select	NP_005318.6:p.Arg236Leu
NM_001184705.4:c.707G>T	NP_001171634.3:p.Arg236Leu
NM_001331027.2:c.719G>T	NP_001317956.2:p.Arg240Leu