Canonical Allele Identifier: CA10640405

Gene: SIX1

Linked Data

• ClinVar Variation Id: 313471
• ClinVar RCV Id: RCV000312472 ; RCV000397340
• dbSNP Id: rs886050573
• gnomAD v2: 14-61116068-C-G
• gnomAD v3: 14-60649350-C-G
• gnomAD v4: 14-60649350-C-G
• MyVariant Identifiers: chr14:g.61116068C>G (hg19) ; chr14:g.60649350C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60649350C>G , CM000676.2:g.60649350C>G	GRCh38
NC_000014.8:g.61116068C>G , CM000676.1:g.61116068C>G	GRCh37
NC_000014.7:g.60185821C>G	NCBI36
NG_008231.1:g.5088G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000645694.3:c.-161G>C MANE Select	ENSP00000494686.1:n.-161G>C
ENST00000247182.6:c.-161G>C	ENSP00000247182.5:n.-161G>C
ENST00000553535.2:n.248+2585G>C
ENST00000554986.2:c.42-2773G>C	ENSP00000452700.2:n.42-2773G>C
ENST00000555955.3:n.1197+2585G>C
NM_005982.3:c.-161G>C	NP_005973.1:n.-161G>C
XM_017021602.2:c.-161G>C	XP_016877091.1:n.-161G>C
NM_005982.4:c.-161G>C MANE Select	NP_005973.1:n.-161G>C