Canonical Allele Identifier: CA3037555

Gene: HADH

Linked Data

• ClinVar Variation Id: 1611346
• ClinVar RCV Id: RCV002157820
• dbSNP Id: rs369931989
• ExAC: 4:108948934 G / A
• gnomAD v2: 4-108948934-G-A
• gnomAD v3: 4-108027778-G-A
• gnomAD v4: 4-108027778-G-A
• MyVariant Identifiers: chr4:g.108948934G>A (hg19) ; chr4:g.108027778G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.108027778G>A , CM000666.2:g.108027778G>A	GRCh38
NC_000004.11:g.108948934G>A , CM000666.1:g.108948934G>A	GRCh37
NC_000004.10:g.109168383G>A	NCBI36
NG_008156.2:g.42995G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507260.3:n.4937G>A
ENST00000510728.6:n.1697+18G>A
ENST00000514776.3:n.160G>A
ENST00000515462.7:n.1914G>A
ENST00000626637.2:c.721+18G>A	ENSP00000486771.1:n.721+18G>A
ENST00000638648.2:c.721+18G>A	ENSP00000507949.1:n.721+18G>A
ENST00000640201.2:n.813G>A
ENST00000640752.2:n.4919+18G>A
ENST00000682067.1:c.542+18G>A
ENST00000682086.1:n.796G>A
ENST00000682373.1:c.368+18G>A
ENST00000684696.1:c.637-161G>A	ENSP00000507675.1:n.637-161G>A
ENST00000309522.8:c.709+18G>A MANE Select	ENSP00000312288.4:n.709+18G>A
ENST00000403312.6:c.709+18G>A	ENSP00000385638.3:n.709+18G>A
ENST00000505878.4:c.886+18G>A	ENSP00000425952.2:n.886+18G>A
ENST00000514776.2:n.160G>A
ENST00000515462.6:n.1914G>A
ENST00000638559.1:c.567+18G>A
ENST00000638621.1:c.295+18G>A	ENSP00000491581.1:n.295+18G>A
ENST00000638648.1:n.860+18G>A
ENST00000639146.1:c.709+18G>A	ENSP00000492345.1:n.709+18G>A
ENST00000639335.1:c.*144+18G>A	ENSP00000491310.1:n.*144+18G>A
ENST00000639698.1:c.516+4215G>A	ENSP00000492420.1:n.516+4215G>A
ENST00000639784.1:c.373+4215G>A
ENST00000640048.1:c.681+18G>A	ENSP00000492009.1:n.681+18G>A
ENST00000640060.1:c.*804+18G>A	ENSP00000492734.1:n.*804+18G>A
ENST00000640201.1:n.682G>A
ENST00000640752.1:n.4912+18G>A
ENST00000309522.7:c.709+18G>A	ENSP00000312288.3:n.709+18G>A
ENST00000403312.5:c.886+18G>A	ENSP00000385638.2:n.886+18G>A
ENST00000505878.3:c.721+18G>A	ENSP00000425952.1:n.721+18G>A
ENST00000507260.1:n.427G>A
ENST00000510728.5:n.249+18G>A
ENST00000515462.5:n.64G>A
ENST00000603302.5:c.709+18G>A	ENSP00000474560.1:n.709+18G>A
ENST00000626637.1:c.721+18G>A	ENSP00000486771.1:n.721+18G>A
NM_001184705.2:c.709+18G>A	NP_001171634.2:n.709+18G>A
NM_005327.4:c.709+18G>A	NP_005318.3:n.709+18G>A
XM_005262972.1:c.721+18G>A	XP_005263029.1:n.721+18G>A
XR_938726.1:n.876G>A
NM_001331027.1:c.721+18G>A	NP_001317956.1:n.721+18G>A
XR_001741214.2:n.803+18G>A
XR_002959727.1:n.821G>A
NM_001184705.3:c.709+18G>A	NP_001171634.2:n.709+18G>A
NM_005327.7:c.709+18G>A MANE Select	NP_005318.6:n.709+18G>A
NM_001184705.4:c.709+18G>A	NP_001171634.3:n.709+18G>A
NM_001331027.2:c.721+18G>A	NP_001317956.2:n.721+18G>A