Canonical Allele Identifier: CA7212629

Gene: SIX6 C14orf39

Linked Data

• ClinVar Variation Id: 313431
• ClinVar RCV Id: RCV000384781 ; RCV002520904
• dbSNP Id: rs770759922
• ExAC: 14:60977796 C / G
• gnomAD v2: 14-60977796-C-G
• gnomAD v3: 14-60511078-C-G
• gnomAD v4: 14-60511078-C-G
• MyVariant Identifiers: chr14:g.60977796C>G (hg19) ; chr14:g.60511078C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60511078C>G , CM000676.2:g.60511078C>G	GRCh38
NC_000014.8:g.60977796C>G , CM000676.1:g.60977796C>G	GRCh37
NC_000014.7:g.60047549C>G	NCBI36
NG_008203.1:g.6859C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327720.6:c.573-6C>G (SIX6) MANE Select	ENSP00000328596.5:n.573-6C>G
ENST00000327720.5:c.573-6C>G (SIX6)	ENSP00000328596.5:n.573-6C>G
ENST00000556799.1:c.-144+4317G>C (C14orf39)	ENSP00000451441.1:n.-144+4317G>C
NM_007374.2:c.573-6C>G (SIX6)	NP_031400.2:n.573-6C>G
NM_007374.3:c.573-6C>G (SIX6) MANE Select	NP_031400.2:n.573-6C>G