Canonical Allele Identifier: CA237420967

Gene: HOXC9 HOXC6

Linked Data

• dbSNP Id: rs757700561
• gnomAD v3: 12-54000757-G-C
• gnomAD v4: 12-54000757-G-C
• MyVariant Identifiers: chr12:g.54394541G>C (hg19) ; chr12:g.54000757G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.54000757G>C , CM000674.2:g.54000757G>C	GRCh38
NC_000012.11:g.54394541G>C , CM000674.1:g.54394541G>C	GRCh37
NC_000012.10:g.52680808G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303450.5:c.538+31G>C (HOXC9) MANE Select	ENSP00000302836.4:n.538+31G>C
ENST00000303450.4:c.538+31G>C (HOXC9)	ENSP00000302836.4:n.538+31G>C
ENST00000504315.1:c.-193+9943G>C (HOXC6)	ENSP00000424124.1:n.-193+9943G>C
ENST00000504557.1:n.123-1673G>C (HOXC9)
ENST00000508190.1:c.538+31G>C (HOXC9)	ENSP00000423861.1:n.538+31G>C
ENST00000509328.1:c.-73+5741G>C (HOXC6)	ENSP00000423898.1:n.-73+5741G>C
ENST00000513209.1:c.166+14747G>C	ENSP00000476742.1:n.166+14747G>C
NM_006897.1:c.538+31G>C (HOXC9)	NP_008828.1:n.538+31G>C
NM_006897.2:c.538+31G>C (HOXC9)	NP_008828.1:n.538+31G>C
NM_006897.3:c.538+31G>C (HOXC9) MANE Select	NP_008828.1:n.538+31G>C