Canonical Allele Identifier: CA10630756

Gene: TWNK

Linked Data

• ClinVar Variation Id: 298491
• ClinVar RCV Id: RCV000260000 ; RCV000317524 ; RCV000374562 ; RCV000370858
• dbSNP Id: rs62626270
• gnomAD v2: 10-102747678-G-C
• gnomAD v3: 10-100987921-G-C
• gnomAD v4: 10-100987921-G-C
• MyVariant Identifiers: chr10:g.102747678G>C (hg19) ; chr10:g.100987921G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100987921G>C , CM000672.2:g.100987921G>C	GRCh38
NC_000010.10:g.102747678G>C , CM000672.1:g.102747678G>C	GRCh37
NC_000010.9:g.102737668G>C	NCBI36
NG_011646.1:g.4595C>G
NG_012624.1:g.5386G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311916.8:c.-290G>C MANE Select	ENSP00000309595.2:n.-290G>C
ENST00000370228.2:c.-290G>C	ENSP00000359248.1:n.-290G>C
ENST00000643860.1:c.-290G>C	ENSP00000494389.1:n.-290G>C
ENST00000646226.1:n.58+308G>C
ENST00000459764.1:n.86+41G>C
ENST00000473656.5:n.64+308G>C
ENST00000476766.5:n.191+364G>C
NM_001163812.1:c.-290G>C	NP_001157284.1:n.-290G>C
NM_001163813.1:c.-120+308G>C	NP_001157285.1:n.-120+308G>C
NM_001163814.1:c.-120+308G>C	NP_001157286.1:n.-120+308G>C
NM_021830.4:c.-290G>C	NP_068602.2:n.-290G>C
XM_011539975.1:c.-58+308G>C	XP_011538277.1:n.-58+308G>C
XR_945788.1:n.544G>C
XM_011539975.2:c.-58+308G>C	XP_011538277.1:n.-58+308G>C
NM_021830.5:c.-290G>C MANE Select	NP_068602.2:n.-290G>C
NM_001163812.2:c.-290G>C	NP_001157284.1:n.-290G>C
NM_001163813.2:c.-120+308G>C	NP_001157285.1:n.-120+308G>C
NM_001163814.2:c.-120+308G>C	NP_001157286.1:n.-120+308G>C
NM_001368275.1:c.-58+308G>C	NP_001355204.1:n.-58+308G>C
NR_160738.1:n.379G>C
NR_160739.1:n.71+308G>C
NR_160740.1:n.379G>C
NR_160741.1:n.379G>C
NR_160742.1:n.379G>C