Canonical Allele Identifier: CA4537502

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342454A>C , CM000669.2:g.143342454A>C	GRCh38
NC_000007.13:g.143039547A>C , CM000669.1:g.143039547A>C	GRCh37
NC_000007.12:g.142749669A>C	NCBI36
NG_009815.1:g.31329A>C
NG_009815.2:g.31329A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.1879A>C MANE Select	NP_000074.3:p.Thr627Pro
ENST00000343257.7:c.1879A>C MANE Select	ENSP00000339867.2:p.Thr627Pro
NM_000083.2:c.1879A>C	NP_000074.2:p.Thr627Pro
NR_046453.1:n.1819A>C
NR_046453.2:n.1834A>C
ENST00000343257.6:c.1879A>C	ENSP00000339867.2:p.Thr627Pro
ENST00000432192.6:c.1703A>C
ENST00000650516.2:c.1879A>C	ENSP00000498052.2:p.Thr627Pro
XM_011515781.1:c.1903A>C	XP_011514083.1:p.Thr635Pro
XM_011515782.1:c.625A>C	XP_011514084.1:p.Thr209Pro
XM_011515782.2:c.625A>C	XP_011514084.1:p.Thr209Pro
XM_017011739.1:c.1453A>C	XP_016867228.1:p.Thr485Pro
XM_017011740.1:c.1429A>C	XP_016867229.1:p.Thr477Pro