Canonical Allele Identifier: CA369654179

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143049001G>C (hg19) ; chr7:g.143351908G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351908G>C , CM000669.2:g.143351908G>C	GRCh38
NC_000007.13:g.143049001G>C , CM000669.1:g.143049001G>C	GRCh37
NC_000007.12:g.142759123G>C	NCBI36
NG_009815.1:g.40783G>C
NG_009815.2:g.40783G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2910G>C	ENSP00000498052.2:p.Leu970Phe
ENST00000343257.7:c.2910G>C MANE Select	ENSP00000339867.2:p.Leu970Phe
ENST00000343257.6:c.2910G>C	ENSP00000339867.2:p.Leu970Phe
NM_000083.2:c.2910G>C	NP_000074.2:p.Leu970Phe
NR_046453.1:n.2850G>C
XM_011515781.1:c.2934G>C	XP_011514083.1:p.Leu978Phe
XM_011515782.1:c.1656G>C	XP_011514084.1:p.Leu552Phe
XM_011515782.2:c.1656G>C	XP_011514084.1:p.Leu552Phe
XM_017011739.1:c.2484G>C	XP_016867228.1:p.Leu828Phe
XM_017011740.1:c.2460G>C	XP_016867229.1:p.Leu820Phe
NM_000083.3:c.2910G>C MANE Select	NP_000074.3:p.Leu970Phe
NR_046453.2:n.2865G>C