Canonical Allele Identifier: CA597874583

Gene: SOX6 C11orf58

Linked Data

• dbSNP Id: rs1047082190
• gnomAD v2: 11-16756916-C-G
• gnomAD v3: 11-16735369-C-G
• gnomAD v4: 11-16735369-C-G
• MyVariant Identifiers: chr11:g.16756916C>G (hg19) ; chr11:g.16735369C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.16735369C>G , CM000673.2:g.16735369C>G	GRCh38
NC_000011.9:g.16756916C>G , CM000673.1:g.16756916C>G	GRCh37
NC_000011.8:g.16713492C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524520.5:n.353+970G>C (SOX6)
ENST00000525259.1:n.267+970G>C (SOX6)
ENST00000527893.5:n.405-9232C>G (C11orf58)
ENST00000530378.5:c.-335+970G>C (SOX6)	ENSP00000432577.1:n.-335+970G>C
NM_001367872.1:c.-261+3056G>C (SOX6)	NP_001354801.1:n.-261+3056G>C