Canonical Allele Identifier: CA440568445

Gene: HADH

Linked Data

• ClinVar Variation Id: 2862884
• ClinVar RCV Id: RCV003621488
• MyVariant Identifiers: chr4:g.108948870C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027714C>T , CM000666.2:g.108027714C>T	GRCh38
NC_000004.11:g.108948870C>T , CM000666.1:g.108948870C>T	GRCh37
NC_000004.10:g.109168319C>T	NCBI36
NG_008156.2:g.42931C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.4873C>T
ENST00000510728.6:n.1651C>T
ENST00000514776.3:n.96C>T
ENST00000515462.7:n.1850C>T
ENST00000626637.2:c.675C>T	ENSP00000486771.1:p.Arg225=
ENST00000638648.2:c.675C>T	ENSP00000507949.1:p.Arg225=
ENST00000640201.2:n.749C>T
ENST00000640752.2:n.4873C>T
ENST00000682067.1:c.496C>T
ENST00000682086.1:n.732C>T
ENST00000682373.1:c.322C>T
ENST00000684696.1:c.637-225C>T	ENSP00000507675.1:n.637-225C>T
ENST00000309522.8:c.663C>T MANE Select	ENSP00000312288.4:p.Arg221=
ENST00000403312.6:c.663C>T	ENSP00000385638.3:p.Arg221=
ENST00000505878.4:c.840C>T	ENSP00000425952.2:p.Arg280=
ENST00000514776.2:n.96C>T
ENST00000515462.6:n.1850C>T
ENST00000638559.1:c.521C>T
ENST00000638621.1:c.249C>T	ENSP00000491581.1:p.Arg83=
ENST00000638648.1:n.814C>T
ENST00000639146.1:c.663C>T	ENSP00000492345.1:p.Arg221=
ENST00000639335.1:c.*98C>T	ENSP00000491310.1:n.*98C>T
ENST00000639698.1:c.516+4151C>T	ENSP00000492420.1:n.516+4151C>T
ENST00000639784.1:c.373+4151C>T
ENST00000640048.1:c.635C>T	ENSP00000492009.1:n.635C>T
ENST00000640060.1:c.*758C>T	ENSP00000492734.1:n.*758C>T
ENST00000640201.1:n.618C>T
ENST00000640752.1:n.4866C>T
ENST00000309522.7:c.663C>T	ENSP00000312288.3:p.Arg221=
ENST00000403312.5:c.840C>T	ENSP00000385638.2:p.Arg280=
ENST00000505878.3:c.675C>T	ENSP00000425952.1:p.Arg225=
ENST00000507260.1:n.363C>T
ENST00000510728.5:n.203C>T
ENST00000603302.5:c.663C>T	ENSP00000474560.1:p.Arg221=
ENST00000626637.1:c.675C>T	ENSP00000486771.1:p.Arg225=
NM_001184705.2:c.663C>T	NP_001171634.2:p.Arg221=
NM_005327.4:c.663C>T	NP_005318.3:p.Arg221=
XM_005262972.1:c.675C>T	XP_005263029.1:p.Arg225=
XR_938726.1:n.812C>T
NM_001331027.1:c.675C>T	NP_001317956.1:p.Arg225=
XR_001741214.2:n.757C>T
XR_002959727.1:n.757C>T
NM_001184705.3:c.663C>T	NP_001171634.2:p.Arg221=
NM_005327.7:c.663C>T MANE Select	NP_005318.6:p.Arg221=
NM_001184705.4:c.663C>T	NP_001171634.3:p.Arg221=
NM_001331027.2:c.675C>T	NP_001317956.2:p.Arg225=