Canonical Allele Identifier: CA10644351

Gene: SIX1

Linked Data

• ClinVar Variation Id: 313453
• ClinVar RCV Id: RCV000357514 ; RCV000399522
• dbSNP Id: rs768828257
• gnomAD v2: 14-61112265-A-C
• gnomAD v3: 14-60645547-A-C
• gnomAD v4: 14-60645547-A-C
• MyVariant Identifiers: chr14:g.61112265A>C (hg19) ; chr14:g.60645547A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60645547A>C , CM000676.2:g.60645547A>C	GRCh38
NC_000014.8:g.61112265A>C , CM000676.1:g.61112265A>C	GRCh37
NC_000014.7:g.60182018A>C	NCBI36
NG_008231.1:g.8891T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645694.3:c.*736T>G MANE Select	ENSP00000494686.1:n.*736T>G
ENST00000247182.6:c.*736T>G	ENSP00000247182.5:n.*736T>G
ENST00000553535.2:n.1279T>G
ENST00000554986.2:c.*736T>G	ENSP00000452700.2:n.*736T>G
ENST00000555955.3:n.2228T>G
NM_005982.3:c.*736T>G	NP_005973.1:n.*736T>G
XM_017021602.2:c.*1010T>G	XP_016877091.1:n.*1010T>G
NM_005982.4:c.*736T>G MANE Select	NP_005973.1:n.*736T>G