Canonical Allele Identifier: CA357836035

Gene: HADH

Linked Data

• dbSNP Id: rs375717077
• gnomAD v3: 4-108027757-C-G
• gnomAD v4: 4-108027757-C-G
• MyVariant Identifiers: chr4:g.108948913C>G (hg19) ; chr4:g.108027757C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027757C>G , CM000666.2:g.108027757C>G	GRCh38
NC_000004.11:g.108948913C>G , CM000666.1:g.108948913C>G	GRCh37
NC_000004.10:g.109168362C>G	NCBI36
NG_008156.2:g.42974C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.4916C>G
ENST00000510728.6:n.1694C>G
ENST00000514776.3:n.139C>G
ENST00000515462.7:n.1893C>G
ENST00000626637.2:c.718C>G	ENSP00000486771.1:p.Arg240Gly
ENST00000638648.2:c.718C>G	ENSP00000507949.1:p.Arg240Gly
ENST00000640201.2:n.792C>G
ENST00000640752.2:n.4916C>G
ENST00000682067.1:c.539C>G
ENST00000682086.1:n.775C>G
ENST00000682373.1:c.365C>G
ENST00000684696.1:c.637-182C>G	ENSP00000507675.1:n.637-182C>G
ENST00000309522.8:c.706C>G MANE Select	ENSP00000312288.4:p.Arg236Gly
ENST00000403312.6:c.706C>G	ENSP00000385638.3:p.Arg236Gly
ENST00000505878.4:c.883C>G	ENSP00000425952.2:p.Arg295Gly
ENST00000514776.2:n.139C>G
ENST00000515462.6:n.1893C>G
ENST00000638559.1:c.564C>G
ENST00000638621.1:c.292C>G	ENSP00000491581.1:p.Arg98Gly
ENST00000638648.1:n.857C>G
ENST00000639146.1:c.706C>G	ENSP00000492345.1:p.Arg236Gly
ENST00000639335.1:c.*141C>G	ENSP00000491310.1:n.*141C>G
ENST00000639698.1:c.516+4194C>G	ENSP00000492420.1:n.516+4194C>G
ENST00000639784.1:c.373+4194C>G
ENST00000640048.1:c.678C>G	ENSP00000492009.1:n.678C>G
ENST00000640060.1:c.*801C>G	ENSP00000492734.1:n.*801C>G
ENST00000640201.1:n.661C>G
ENST00000640752.1:n.4909C>G
ENST00000309522.7:c.706C>G	ENSP00000312288.3:p.Arg236Gly
ENST00000403312.5:c.883C>G	ENSP00000385638.2:p.Arg295Gly
ENST00000505878.3:c.718C>G	ENSP00000425952.1:p.Arg240Gly
ENST00000507260.1:n.406C>G
ENST00000510728.5:n.246C>G
ENST00000515462.5:n.43C>G
ENST00000603302.5:c.706C>G	ENSP00000474560.1:p.Arg236Gly
ENST00000626637.1:c.718C>G	ENSP00000486771.1:p.Arg240Gly
NM_001184705.2:c.706C>G	NP_001171634.2:p.Arg236Gly
NM_005327.4:c.706C>G	NP_005318.3:p.Arg236Gly
XM_005262972.1:c.718C>G	XP_005263029.1:p.Arg240Gly
XR_938726.1:n.855C>G
NM_001331027.1:c.718C>G	NP_001317956.1:p.Arg240Gly
XR_001741214.2:n.800C>G
XR_002959727.1:n.800C>G
NM_001184705.3:c.706C>G	NP_001171634.2:p.Arg236Gly
NM_005327.7:c.706C>G MANE Select	NP_005318.6:p.Arg236Gly
NM_001184705.4:c.706C>G	NP_001171634.3:p.Arg236Gly
NM_001331027.2:c.718C>G	NP_001317956.2:p.Arg240Gly