Canonical Allele Identifier: CA1340170911

Gene: CHL1

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.355870A>C , CM000665.2:g.355870A>C	GRCh38
NC_000003.11:g.397553A>C , CM000665.1:g.397553A>C	GRCh37
NC_000003.10:g.372553A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256509.7:c.1165+1099A>C MANE Select	ENSP00000256509.2:n.1165+1099A>C
ENST00000256509.6:c.1165+1099A>C	ENSP00000256509.2:n.1165+1099A>C
ENST00000397491.6:c.1117+1099A>C	ENSP00000380628.2:n.1117+1099A>C
ENST00000453040.5:c.*1455+1099A>C	ENSP00000413109.1:n.*1455+1099A>C
ENST00000620033.4:c.1165+1099A>C	ENSP00000483512.1:n.1165+1099A>C
NM_001253387.1:c.1117+1099A>C	NP_001240316.1:n.1117+1099A>C
NM_001253388.1:c.1165+1099A>C	NP_001240317.1:n.1165+1099A>C
NM_006614.3:c.1165+1099A>C	NP_006605.2:n.1165+1099A>C
XM_006712938.1:c.1165+1099A>C	XP_006713001.1:n.1165+1099A>C
XM_006712939.2:c.1165+1099A>C	XP_006713002.1:n.1165+1099A>C
XM_006712940.2:c.1165+1099A>C	XP_006713003.1:n.1165+1099A>C
XM_011533292.1:c.1165+1099A>C	XP_011531594.1:n.1165+1099A>C
XM_011533293.1:c.1165+1099A>C	XP_011531595.1:n.1165+1099A>C
XM_011533294.1:c.1117+1099A>C	XP_011531596.1:n.1117+1099A>C
XM_011533295.1:c.1117+1099A>C	XP_011531597.1:n.1117+1099A>C
XM_011533296.1:c.1165+1099A>C	XP_011531598.1:n.1165+1099A>C
XM_011533297.1:c.1165+1099A>C	XP_011531599.1:n.1165+1099A>C
XM_006712939.3:c.1165+1099A>C	XP_006713002.1:n.1165+1099A>C
XM_006712940.3:c.1165+1099A>C	XP_006713003.1:n.1165+1099A>C
XM_017005566.1:c.1165+1099A>C	XP_016861055.1:n.1165+1099A>C
XM_017005567.1:c.1165+1099A>C	XP_016861056.1:n.1165+1099A>C
XM_017005568.1:c.1165+1099A>C	XP_016861057.1:n.1165+1099A>C
XM_017005569.1:c.1117+1099A>C	XP_016861058.1:n.1117+1099A>C
XM_017005570.1:c.1117+1099A>C	XP_016861059.1:n.1117+1099A>C
XM_017005571.1:c.1117+1099A>C	XP_016861060.1:n.1117+1099A>C
XM_017005572.1:c.1165+1099A>C	XP_016861061.1:n.1165+1099A>C
XM_017005573.1:c.1165+1099A>C	XP_016861062.1:n.1165+1099A>C
NM_006614.4:c.1165+1099A>C MANE Select	NP_006605.2:n.1165+1099A>C
NM_001253387.2:c.1117+1099A>C	NP_001240316.1:n.1117+1099A>C