Canonical Allele Identifier: CA7212590

Gene: SIX6 C14orf39

Linked Data

• ClinVar Variation Id: 260163
• ClinVar RCV Id: RCV000253819 ; RCV000270432 ; RCV000989235 ; RCV001675733
• dbSNP Id: rs33912345
• ExAC: 14:60976537 C / A
• gnomAD v2: 14-60976537-C-A
• gnomAD v3: 14-60509819-C-A
• gnomAD v4: 14-60509819-C-A
• MyVariant Identifiers: chr14:g.60976537C>A (hg19) ; chr14:g.60509819C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60509819C>A , CM000676.2:g.60509819C>A	GRCh38
NC_000014.8:g.60976537C>A , CM000676.1:g.60976537C>A	GRCh37
NC_000014.7:g.60046290C>A	NCBI36
NG_008203.1:g.5600C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327720.6:c.421C>A (SIX6) MANE Select	ENSP00000328596.5:p.His141Asn
ENST00000327720.5:c.421C>A (SIX6)	ENSP00000328596.5:p.His141Asn
ENST00000556799.1:c.-144+5576G>T (C14orf39)	ENSP00000451441.1:n.-144+5576G>T
NM_007374.2:c.421C>A (SIX6)	NP_031400.2:p.His141Asn
NM_007374.3:c.421C>A (SIX6) MANE Select	NP_031400.2:p.His141Asn