Canonical Allele Identifier: CA369686339

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143323318G>C , CM000669.2:g.143323318G>C	GRCh38
NC_000007.13:g.143020411G>C , CM000669.1:g.143020411G>C	GRCh37
NC_000007.12:g.142730533G>C	NCBI36
NG_009815.1:g.12193G>C
NG_009815.2:g.12193G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.706G>C MANE Select	NP_000074.3:p.Val236Leu
ENST00000343257.7:c.706G>C MANE Select	ENSP00000339867.2:p.Val236Leu
NM_000083.2:c.706G>C	NP_000074.2:p.Val236Leu
NR_046453.1:n.793G>C
NR_046453.2:n.808G>C
ENST00000343257.6:c.706G>C	ENSP00000339867.2:p.Val236Leu
ENST00000432192.5:c.155-255G>C
ENST00000432192.6:c.465-255G>C
ENST00000455478.5:c.164G>C
ENST00000455478.6:c.160G>C	ENSP00000400027.2:p.Val54Leu
ENST00000495612.1:n.154+1470G>C
ENST00000650516.1:c.706G>C	ENSP00000498052.1:p.Val236Leu
ENST00000650516.2:c.706G>C	ENSP00000498052.2:p.Val236Leu
XM_011515781.1:c.706G>C	XP_011514083.1:p.Val236Leu
XM_017011739.1:c.403+1470G>C	XP_016867228.1:n.403+1470G>C
XM_017011740.1:c.403+1470G>C	XP_016867229.1:n.403+1470G>C