Canonical Allele Identifier: CA1040501088

Gene: HIBCH

Linked Data

• ClinVar Variation Id: 1467805
• ClinVar RCV Id: RCV001970494
• dbSNP Id: rs863225062
• gnomAD v3: 2-190205149-TA-T
• gnomAD v4: 2-190205149-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190205152del , CM000664.2:g.190205152del	GRCh38
NC_000002.11:g.191069878del , CM000664.1:g.191069878del	GRCh37
NC_000002.10:g.190778123del	NCBI36
NG_017062.1:g.119896del

Transcript Alleles

HGVS	Amino-acid change
ENST00000359678.10:c.1128del MANE Select	ENSP00000352706.5:p.Phe376LeufsTer9
ENST00000359678.9:c.1128del	ENSP00000352706.5:p.Phe376LeufsTer9
ENST00000392332.7:c.*77del	ENSP00000376144.3:n.*77del
ENST00000399855.2:c.83del
ENST00000410045.5:c.459del	ENSP00000386274.1:p.Phe153LeufsTer9
ENST00000486981.1:n.363del
ENST00000622246.4:c.1110del	ENSP00000481055.1:p.Phe370LeufsTer9
NM_014362.3:c.1128del	NP_055177.2:p.Phe376LeufsTer9
NM_198047.2:c.*77del	NP_932164.1:n.*77del
XM_011510953.1:c.1128del	XP_011509255.1:p.Phe376LeufsTer9
XM_011510954.1:c.630del	XP_011509256.1:p.Phe210LeufsTer9
XR_922903.1:n.1338del
XM_011510953.2:c.1128del	XP_011509255.1:p.Phe376LeufsTer9
XR_922903.2:n.1157del
NM_014362.4:c.1128del MANE Select	NP_055177.2:p.Phe376LeufsTer9
NM_198047.3:c.*77del	NP_932164.1:n.*77del