Canonical Allele Identifier: CA2665703034

Gene: KLHDC8B

Linked Data

• gnomAD v4: 3-49173307-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49173307T>C , CM000665.2:g.49173307T>C	GRCh38
NC_000003.11:g.49210740T>C , CM000665.1:g.49210740T>C	GRCh37
NC_000003.10:g.49185744T>C	NCBI36
NG_027702.1:g.6723T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332780.4:c.376+162T>C MANE Select	ENSP00000327468.2:n.376+162T>C
ENST00000332780.3:c.376+162T>C	ENSP00000327468.2:n.376+162T>C
ENST00000459846.6:n.230+506T>C
ENST00000476495.2:n.463+132T>C
NM_173546.2:c.376+162T>C	NP_775817.1:n.376+162T>C
XM_005264938.1:c.376+162T>C	XP_005264995.1:n.376+162T>C
XM_005264939.3:c.-6+506T>C	XP_005264996.1:n.-6+506T>C
XM_005264940.3:c.-6+506T>C	XP_005264997.1:n.-6+506T>C
XM_006713015.1:c.406+132T>C	XP_006713078.1:n.406+132T>C
XM_006713016.1:c.406+132T>C	XP_006713079.1:n.406+132T>C
XM_005264938.3:c.376+162T>C	XP_005264995.1:n.376+162T>C
XM_005264940.4:c.-6+506T>C	XP_005264997.1:n.-6+506T>C
XM_006713015.3:c.406+132T>C	XP_006713078.1:n.406+132T>C
XM_006713016.3:c.406+132T>C	XP_006713079.1:n.406+132T>C
NM_173546.3:c.376+162T>C MANE Select	NP_775817.1:n.376+162T>C