Canonical Allele Identifier: CA74524474

Gene: KLHDC8B

Linked Data

• dbSNP Id: rs894772608
• gnomAD v3: 3-49173309-C-T
• gnomAD v4: 3-49173309-C-T
• MyVariant Identifiers: chr3:g.49210742C>T (hg19) ; chr3:g.49173309C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49173309C>T , CM000665.2:g.49173309C>T	GRCh38
NC_000003.11:g.49210742C>T , CM000665.1:g.49210742C>T	GRCh37
NC_000003.10:g.49185746C>T	NCBI36
NG_027702.1:g.6725C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332780.4:c.376+164C>T MANE Select	ENSP00000327468.2:n.376+164C>T
ENST00000332780.3:c.376+164C>T	ENSP00000327468.2:n.376+164C>T
ENST00000459846.6:n.230+508C>T
ENST00000476495.2:n.463+134C>T
NM_173546.2:c.376+164C>T	NP_775817.1:n.376+164C>T
XM_005264938.1:c.376+164C>T	XP_005264995.1:n.376+164C>T
XM_005264939.3:c.-6+508C>T	XP_005264996.1:n.-6+508C>T
XM_005264940.3:c.-6+508C>T	XP_005264997.1:n.-6+508C>T
XM_006713015.1:c.406+134C>T	XP_006713078.1:n.406+134C>T
XM_006713016.1:c.406+134C>T	XP_006713079.1:n.406+134C>T
XM_005264938.3:c.376+164C>T	XP_005264995.1:n.376+164C>T
XM_005264940.4:c.-6+508C>T	XP_005264997.1:n.-6+508C>T
XM_006713015.3:c.406+134C>T	XP_006713078.1:n.406+134C>T
XM_006713016.3:c.406+134C>T	XP_006713079.1:n.406+134C>T
NM_173546.3:c.376+164C>T MANE Select	NP_775817.1:n.376+164C>T