Canonical Allele Identifier: CA369687546

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143021546G>C (hg19) ; chr7:g.143324453G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143324453G>C , CM000669.2:g.143324453G>C	GRCh38
NC_000007.13:g.143021546G>C , CM000669.1:g.143021546G>C	GRCh37
NC_000007.12:g.142731668G>C	NCBI36
NG_009815.1:g.13328G>C
NG_009815.2:g.13328G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.853+556G>C	ENSP00000498052.2:n.853+556G>C
ENST00000343257.7:c.814G>C MANE Select	ENSP00000339867.2:p.Ala272Pro
ENST00000432192.6:c.638G>C
ENST00000455478.6:c.402G>C	ENSP00000400027.2:n.402G>C
ENST00000650516.1:c.853+556G>C	ENSP00000498052.1:n.853+556G>C
ENST00000343257.6:c.814G>C	ENSP00000339867.2:p.Ala272Pro
ENST00000432192.5:c.328G>C
ENST00000455478.5:c.406G>C
ENST00000495612.1:n.154+2605G>C
NM_000083.2:c.814G>C	NP_000074.2:p.Ala272Pro
NR_046453.1:n.904G>C
XM_011515781.1:c.853+556G>C	XP_011514083.1:n.853+556G>C
XM_017011739.1:c.403+2605G>C	XP_016867228.1:n.403+2605G>C
XM_017011740.1:c.403+2605G>C	XP_016867229.1:n.403+2605G>C
NM_000083.3:c.814G>C MANE Select	NP_000074.3:p.Ala272Pro
NR_046453.2:n.919G>C