Canonical Allele Identifier: CA68742261

Gene: CHL1

Linked Data

• dbSNP Id: rs930709829
• gnomAD v2: 3-253947-T-C
• gnomAD v3: 3-212264-T-C
• gnomAD v4: 3-212264-T-C
• MyVariant Identifiers: chr3:g.253947T>C (hg19) ; chr3:g.212264T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.212264T>C , CM000665.2:g.212264T>C	GRCh38
NC_000003.11:g.253947T>C , CM000665.1:g.253947T>C	GRCh37
NC_000003.10:g.228947T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000256509.7:c.-175+15201T>C MANE Select	ENSP00000256509.2:n.-175+15201T>C
ENST00000256509.6:c.-175+15201T>C	ENSP00000256509.2:n.-175+15201T>C
ENST00000397491.6:c.-175+15201T>C	ENSP00000380628.2:n.-175+15201T>C
ENST00000421198.5:c.-175+14896T>C	ENSP00000413628.1:n.-175+14896T>C
ENST00000427688.5:c.-95+15201T>C	ENSP00000403311.1:n.-95+15201T>C
ENST00000435603.5:c.-95+14172T>C	ENSP00000397445.1:n.-95+14172T>C
ENST00000453040.5:c.*164+14172T>C	ENSP00000413109.1:n.*164+14172T>C
ENST00000481167.5:n.293+15201T>C
ENST00000486881.1:n.80-940T>C
ENST00000489224.5:n.450+14172T>C
NM_001253387.1:c.-175+15201T>C	NP_001240316.1:n.-175+15201T>C
NM_006614.3:c.-175+15201T>C	NP_006605.2:n.-175+15201T>C
NR_045572.1:n.450+14172T>C
XM_006712938.1:c.-175+14896T>C	XP_006713001.1:n.-175+14896T>C
XM_006712939.2:c.-95+15201T>C	XP_006713002.1:n.-95+15201T>C
XM_006712940.2:c.-95+14172T>C	XP_006713003.1:n.-95+14172T>C
XM_011533292.1:c.-175+14172T>C	XP_011531594.1:n.-175+14172T>C
XM_011533294.1:c.-175+14896T>C	XP_011531596.1:n.-175+14896T>C
XM_011533295.1:c.-175+14172T>C	XP_011531597.1:n.-175+14172T>C
XM_011533296.1:c.-175+14896T>C	XP_011531598.1:n.-175+14896T>C
XM_011533297.1:c.-175+14896T>C	XP_011531599.1:n.-175+14896T>C
XM_006712939.3:c.-95+15201T>C	XP_006713002.1:n.-95+15201T>C
XM_006712940.3:c.-95+14172T>C	XP_006713003.1:n.-95+14172T>C
XM_017005566.1:c.-4671-940T>C	XP_016861055.1:n.-4671-940T>C
XM_017005567.1:c.-95+14896T>C	XP_016861056.1:n.-95+14896T>C
XM_017005569.1:c.-95+15201T>C	XP_016861058.1:n.-95+15201T>C
XM_017005570.1:c.-95+14172T>C	XP_016861059.1:n.-95+14172T>C
XM_017005571.1:c.-95+14896T>C	XP_016861060.1:n.-95+14896T>C
XM_017005572.1:c.-175+15201T>C	XP_016861061.1:n.-175+15201T>C
XM_017005573.1:c.-95+15201T>C	XP_016861062.1:n.-95+15201T>C
NM_006614.4:c.-175+15201T>C MANE Select	NP_006605.2:n.-175+15201T>C
NR_045572.2:n.204+14172T>C
NM_001253387.2:c.-175+15201T>C	NP_001240316.1:n.-175+15201T>C