Canonical Allele Identifier: CA578445467

Gene: CLCN1

Linked Data

• dbSNP Id: rs1205782583
• gnomAD v2: 7-143029604-G-C
• MyVariant Identifiers: chr7:g.143029604G>C (hg19) ; chr7:g.143332511G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332511G>C , CM000669.2:g.143332511G>C	GRCh38
NC_000007.13:g.143029604G>C , CM000669.1:g.143029604G>C	GRCh37
NC_000007.12:g.142739726G>C	NCBI36
NG_009815.1:g.21386G>C
NG_009815.2:g.21386G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1251+8G>C	ENSP00000498052.2:n.1251+8G>C
ENST00000343257.7:c.1251+8G>C MANE Select	ENSP00000339867.2:n.1251+8G>C
ENST00000432192.6:c.1075+8G>C
ENST00000343257.6:c.1251+8G>C	ENSP00000339867.2:n.1251+8G>C
NM_000083.2:c.1251+8G>C	NP_000074.2:n.1251+8G>C
NR_046453.1:n.1341+8G>C
XM_011515781.1:c.1259G>C	XP_011514083.1:p.Cys420Ser
XM_011515782.1:c.-3-213G>C	XP_011514084.1:n.-3-213G>C
XM_011515782.2:c.-3-213G>C	XP_011514084.1:n.-3-213G>C
XM_017011739.1:c.809G>C	XP_016867228.1:p.Cys270Ser
XM_017011740.1:c.801+8G>C	XP_016867229.1:n.801+8G>C
NM_000083.3:c.1251+8G>C MANE Select	NP_000074.3:n.1251+8G>C
NR_046453.2:n.1356+8G>C