Canonical Allele Identifier: CA411497640

Gene: SOX10 POLR2F

Linked Data

• ClinVar Variation Id: 1065048
• ClinVar RCV Id: RCV001375372
• dbSNP Id: rs756120041
• gnomAD v4: 22-37977994-G-T
• MyVariant Identifiers: chr22:g.38374001G>T (hg19) ; chr22:g.37977994G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37977994G>T , CM000684.2:g.37977994G>T	GRCh38
NC_000022.10:g.38374001G>T , CM000684.1:g.38374001G>T	GRCh37
NC_000022.9:g.36703947G>T	NCBI36
NG_007948.1:g.11539C>A , LRG_271:g.11539C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000698177.1:c.786C>A (SOX10)	ENSP00000513596.1:p.Cys262Ter
ENST00000690831.1:c.*192C>A (SOX10)	ENSP00000510381.1:n.*192C>A
ENST00000396884.8:c.570C>A (SOX10) MANE Select	ENSP00000380093.2:p.Cys190Ter
ENST00000651746.1:c.38C>A (SOX10)
ENST00000360880.6:c.570C>A (SOX10)	ENSP00000354130.2:p.Cys190Ter
ENST00000396884.6:c.570C>A (SOX10)	ENSP00000380093.2:p.Cys190Ter
ENST00000405557.5:c.293+10824G>T (POLR2F)	ENSP00000384112.1:n.293+10824G>T
ENST00000407936.5:c.294-8160G>T (POLR2F)	ENSP00000385725.1:n.294-8160G>T
ENST00000427770.1:c.570C>A (SOX10)	ENSP00000414853.1:p.Cys190Ter
ENST00000443002.5:c.*38+5684G>T (POLR2F)	ENSP00000406826.1:n.*38+5684G>T
ENST00000446929.5:c.200C>A (SOX10)
NM_001301130.1:c.294-8160G>T (POLR2F)	NP_001288059.1:n.294-8160G>T
NM_001301131.1:c.293+10824G>T (POLR2F)	NP_001288060.1:n.293+10824G>T
NM_006941.3:c.570C>A , LRG_271t1:c.570C>A (SOX10)	NP_008872.1:p.Cys190Ter
XR_938243.1:n.158+5684G>T
NM_001363825.1:c.*38+5684G>T (POLR2F)	NP_001350754.1:n.*38+5684G>T
NM_001301130.2:c.294-8160G>T (POLR2F)	NP_001288059.1:n.294-8160G>T
NM_001301131.2:c.293+10824G>T (POLR2F)	NP_001288060.1:n.293+10824G>T
NM_006941.4:c.570C>A (SOX10) MANE Select	NP_008872.1:p.Cys190Ter