Canonical Allele Identifier: CA785077048

Gene: HADH

Linked Data

• dbSNP Id: rs1416379042
• gnomAD v3: 4-108028037-T-C
• gnomAD v4: 4-108028037-T-C
• MyVariant Identifiers: chr4:g.108949193T>C (hg19) ; chr4:g.108028037T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108028037T>C , CM000666.2:g.108028037T>C	GRCh38
NC_000004.11:g.108949193T>C , CM000666.1:g.108949193T>C	GRCh37
NC_000004.10:g.109168642T>C	NCBI36
NG_008156.2:g.43254T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.5196T>C
ENST00000510728.6:n.1796T>C
ENST00000514776.3:n.419T>C
ENST00000515462.7:n.2173T>C
ENST00000626637.2:c.721+277T>C	ENSP00000486771.1:n.721+277T>C
ENST00000638648.2:c.*70T>C	ENSP00000507949.1:n.*70T>C
ENST00000640201.2:n.1072T>C
ENST00000640752.2:n.4919+277T>C
ENST00000682067.1:c.542+277T>C
ENST00000682086.1:n.1055T>C
ENST00000682373.1:c.368+277T>C
ENST00000684696.1:c.735T>C	ENSP00000507675.1:p.Asp245=
ENST00000309522.8:c.709+277T>C MANE Select	ENSP00000312288.4:n.709+277T>C
ENST00000403312.6:c.709+277T>C	ENSP00000385638.3:n.709+277T>C
ENST00000505878.4:c.886+277T>C	ENSP00000425952.2:n.886+277T>C
ENST00000514776.2:n.419T>C
ENST00000515462.6:n.2173T>C
ENST00000638559.1:c.567+277T>C
ENST00000638621.1:c.295+277T>C	ENSP00000491581.1:n.295+277T>C
ENST00000638648.1:n.860+277T>C
ENST00000639146.1:c.*70T>C	ENSP00000492345.1:n.*70T>C
ENST00000639335.1:c.*144+277T>C	ENSP00000491310.1:n.*144+277T>C
ENST00000639698.1:c.516+4474T>C	ENSP00000492420.1:n.516+4474T>C
ENST00000639784.1:c.373+4474T>C
ENST00000640048.1:c.681+277T>C	ENSP00000492009.1:n.681+277T>C
ENST00000640060.1:c.*804+277T>C	ENSP00000492734.1:n.*804+277T>C
ENST00000640201.1:n.941T>C
ENST00000640752.1:n.4912+277T>C
ENST00000309522.7:c.709+277T>C	ENSP00000312288.3:n.709+277T>C
ENST00000403312.5:c.886+277T>C	ENSP00000385638.2:n.886+277T>C
ENST00000505878.3:c.721+277T>C	ENSP00000425952.1:n.721+277T>C
ENST00000510728.5:n.348T>C
ENST00000515462.5:n.323T>C
ENST00000603302.5:c.709+277T>C	ENSP00000474560.1:n.709+277T>C
ENST00000626637.1:c.721+277T>C	ENSP00000486771.1:n.721+277T>C
NM_001184705.2:c.709+277T>C	NP_001171634.2:n.709+277T>C
NM_005327.4:c.709+277T>C	NP_005318.3:n.709+277T>C
XM_005262972.1:c.721+277T>C	XP_005263029.1:n.721+277T>C
XR_938726.1:n.1135T>C
NM_001331027.1:c.721+277T>C	NP_001317956.1:n.721+277T>C
XR_001741214.2:n.902T>C
XR_002959727.1:n.1080T>C
NM_001184705.3:c.709+277T>C	NP_001171634.2:n.709+277T>C
NM_005327.7:c.709+277T>C MANE Select	NP_005318.6:n.709+277T>C
NM_001184705.4:c.709+277T>C	NP_001171634.3:n.709+277T>C
NM_001331027.2:c.721+277T>C	NP_001317956.2:n.721+277T>C