Canonical Allele Identifier: CA4537498

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342417G>C , CM000669.2:g.143342417G>C	GRCh38
NC_000007.13:g.143039510G>C , CM000669.1:g.143039510G>C	GRCh37
NC_000007.12:g.142749632G>C	NCBI36
NG_009815.1:g.31292G>C
NG_009815.2:g.31292G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.1842G>C MANE Select	NP_000074.3:p.Lys614Asn
ENST00000343257.7:c.1842G>C MANE Select	ENSP00000339867.2:p.Lys614Asn
NM_000083.2:c.1842G>C	NP_000074.2:p.Lys614Asn
NR_046453.1:n.1782G>C
NR_046453.2:n.1797G>C
ENST00000343257.6:c.1842G>C	ENSP00000339867.2:p.Lys614Asn
ENST00000432192.6:c.1666G>C
ENST00000650516.2:c.1842G>C	ENSP00000498052.2:p.Lys614Asn
XM_011515781.1:c.1866G>C	XP_011514083.1:p.Lys622Asn
XM_011515782.1:c.588G>C	XP_011514084.1:p.Lys196Asn
XM_011515782.2:c.588G>C	XP_011514084.1:p.Lys196Asn
XM_017011739.1:c.1416G>C	XP_016867228.1:p.Lys472Asn
XM_017011740.1:c.1392G>C	XP_016867229.1:p.Lys464Asn