Canonical Allele Identifier: CA357835905

Gene: HADH

Linked Data

• gnomAD v4: 4-108027721-G-C
• MyVariant Identifiers: chr4:g.108948877G>C (hg19) ; chr4:g.108027721G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027721G>C , CM000666.2:g.108027721G>C	GRCh38
NC_000004.11:g.108948877G>C , CM000666.1:g.108948877G>C	GRCh37
NC_000004.10:g.109168326G>C	NCBI36
NG_008156.2:g.42938G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.4880G>C
ENST00000510728.6:n.1658G>C
ENST00000514776.3:n.103G>C
ENST00000515462.7:n.1857G>C
ENST00000626637.2:c.682G>C	ENSP00000486771.1:p.Val228Leu
ENST00000638648.2:c.682G>C	ENSP00000507949.1:p.Val228Leu
ENST00000640201.2:n.756G>C
ENST00000640752.2:n.4880G>C
ENST00000682067.1:c.503G>C
ENST00000682086.1:n.739G>C
ENST00000682373.1:c.329G>C
ENST00000684696.1:c.637-218G>C	ENSP00000507675.1:n.637-218G>C
ENST00000309522.8:c.670G>C MANE Select	ENSP00000312288.4:p.Val224Leu
ENST00000403312.6:c.670G>C	ENSP00000385638.3:p.Val224Leu
ENST00000505878.4:c.847G>C	ENSP00000425952.2:p.Val283Leu
ENST00000514776.2:n.103G>C
ENST00000515462.6:n.1857G>C
ENST00000638559.1:c.528G>C
ENST00000638621.1:c.256G>C	ENSP00000491581.1:p.Val86Leu
ENST00000638648.1:n.821G>C
ENST00000639146.1:c.670G>C	ENSP00000492345.1:p.Val224Leu
ENST00000639335.1:c.*105G>C	ENSP00000491310.1:n.*105G>C
ENST00000639698.1:c.516+4158G>C	ENSP00000492420.1:n.516+4158G>C
ENST00000639784.1:c.373+4158G>C
ENST00000640048.1:c.642G>C	ENSP00000492009.1:n.642G>C
ENST00000640060.1:c.*765G>C	ENSP00000492734.1:n.*765G>C
ENST00000640201.1:n.625G>C
ENST00000640752.1:n.4873G>C
ENST00000309522.7:c.670G>C	ENSP00000312288.3:p.Val224Leu
ENST00000403312.5:c.847G>C	ENSP00000385638.2:p.Val283Leu
ENST00000505878.3:c.682G>C	ENSP00000425952.1:p.Val228Leu
ENST00000507260.1:n.370G>C
ENST00000510728.5:n.210G>C
ENST00000515462.5:n.7G>C
ENST00000603302.5:c.670G>C	ENSP00000474560.1:p.Val224Leu
ENST00000626637.1:c.682G>C	ENSP00000486771.1:p.Val228Leu
NM_001184705.2:c.670G>C	NP_001171634.2:p.Val224Leu
NM_005327.4:c.670G>C	NP_005318.3:p.Val224Leu
XM_005262972.1:c.682G>C	XP_005263029.1:p.Val228Leu
XR_938726.1:n.819G>C
NM_001331027.1:c.682G>C	NP_001317956.1:p.Val228Leu
XR_001741214.2:n.764G>C
XR_002959727.1:n.764G>C
NM_001184705.3:c.670G>C	NP_001171634.2:p.Val224Leu
NM_005327.7:c.670G>C MANE Select	NP_005318.6:p.Val224Leu
NM_001184705.4:c.670G>C	NP_001171634.3:p.Val224Leu
NM_001331027.2:c.682G>C	NP_001317956.2:p.Val228Leu