Canonical Allele Identifier: CA10640352

Gene: SIX6 C14orf39

Linked Data

• ClinVar Variation Id: 313426
• ClinVar RCV Id: RCV000369028 ; RCV001642976
• dbSNP Id: rs1956558
• gnomAD v2: 14-60975956-T-C
• gnomAD v3: 14-60509238-T-C
• gnomAD v4: 14-60509238-T-C
• MyVariant Identifiers: chr14:g.60975956T>C (hg19) ; chr14:g.60509238T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60509238T>C , CM000676.2:g.60509238T>C	GRCh38
NC_000014.8:g.60975956T>C , CM000676.1:g.60975956T>C	GRCh37
NC_000014.7:g.60045709T>C	NCBI36
NG_008203.1:g.5019T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327720.6:c.-161T>C (SIX6) MANE Select	ENSP00000328596.5:n.-161T>C
ENST00000327720.5:c.-161T>C (SIX6)	ENSP00000328596.5:n.-161T>C
ENST00000556799.1:c.-144+6157A>G (C14orf39)	ENSP00000451441.1:n.-144+6157A>G
NM_007374.2:c.-161T>C (SIX6)	NP_031400.2:n.-161T>C
NM_007374.3:c.-161T>C (SIX6) MANE Select	NP_031400.2:n.-161T>C