Canonical Allele Identifier: CA2838399942

Gene: CHL1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.244568A>T , CM000665.2:g.244568A>T	GRCh38
NC_000003.11:g.286251A>T , CM000665.1:g.286251A>T	GRCh37
NC_000003.10:g.261251A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256509.7:c.-174-45A>T MANE Select	ENSP00000256509.2:n.-174-45A>T
ENST00000256509.6:c.-174-45A>T	ENSP00000256509.2:n.-174-45A>T
ENST00000397491.6:c.-174-45A>T	ENSP00000380628.2:n.-174-45A>T
ENST00000421198.5:c.-174-45A>T	ENSP00000413628.1:n.-174-45A>T
ENST00000427688.5:c.-95+47505A>T	ENSP00000403311.1:n.-95+47505A>T
ENST00000435603.5:c.-95+46476A>T	ENSP00000397445.1:n.-95+46476A>T
ENST00000449294.6:c.-174-45A>T	ENSP00000390440.2:n.-174-45A>T
ENST00000453040.5:c.*165-45A>T	ENSP00000413109.1:n.*165-45A>T
ENST00000481167.5:n.294-45A>T
ENST00000489224.5:n.451-45A>T
NM_001253387.1:c.-174-45A>T	NP_001240316.1:n.-174-45A>T
NM_006614.3:c.-174-45A>T	NP_006605.2:n.-174-45A>T
NR_045572.1:n.451-45A>T
XM_006712938.1:c.-174-45A>T	XP_006713001.1:n.-174-45A>T
XM_006712939.2:c.-95+47505A>T	XP_006713002.1:n.-95+47505A>T
XM_006712940.2:c.-95+46476A>T	XP_006713003.1:n.-95+46476A>T
XM_011533292.1:c.-174-45A>T	XP_011531594.1:n.-174-45A>T
XM_011533293.1:c.-174-45A>T	XP_011531595.1:n.-174-45A>T
XM_011533294.1:c.-174-45A>T	XP_011531596.1:n.-174-45A>T
XM_011533295.1:c.-174-45A>T	XP_011531597.1:n.-174-45A>T
XM_011533296.1:c.-174-45A>T	XP_011531598.1:n.-174-45A>T
XM_011533297.1:c.-174-45A>T	XP_011531599.1:n.-174-45A>T
XM_006712939.3:c.-95+47505A>T	XP_006713002.1:n.-95+47505A>T
XM_006712940.3:c.-95+46476A>T	XP_006713003.1:n.-95+46476A>T
XM_017005566.1:c.-174-45A>T	XP_016861055.1:n.-174-45A>T
XM_017005567.1:c.-95+47200A>T	XP_016861056.1:n.-95+47200A>T
XM_017005569.1:c.-95+47505A>T	XP_016861058.1:n.-95+47505A>T
XM_017005570.1:c.-95+46476A>T	XP_016861059.1:n.-95+46476A>T
XM_017005571.1:c.-95+47200A>T	XP_016861060.1:n.-95+47200A>T
XM_017005572.1:c.-174-45A>T	XP_016861061.1:n.-174-45A>T
XM_017005573.1:c.-95+47505A>T	XP_016861062.1:n.-95+47505A>T
NM_006614.4:c.-174-45A>T MANE Select	NP_006605.2:n.-174-45A>T
NR_045572.2:n.205-45A>T
NM_001253387.2:c.-174-45A>T	NP_001240316.1:n.-174-45A>T