Canonical Allele Identifier: CA4537326

Gene: CLCN1

Linked Data

• dbSNP Id: rs767259407
• ExAC: 7:143029917 A / C
• gnomAD v2: 7-143029917-A-C
• MyVariant Identifiers: chr7:g.143029917A>C (hg19) ; chr7:g.143332824A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332824A>C , CM000669.2:g.143332824A>C	GRCh38
NC_000007.13:g.143029917A>C , CM000669.1:g.143029917A>C	GRCh37
NC_000007.12:g.142740039A>C	NCBI36
NG_009815.1:g.21699A>C
NG_009815.2:g.21699A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1352A>C	ENSP00000498052.2:p.His451Pro
ENST00000343257.7:c.1352A>C MANE Select	ENSP00000339867.2:p.His451Pro
ENST00000432192.6:c.1176A>C
ENST00000343257.6:c.1352A>C	ENSP00000339867.2:p.His451Pro
NM_000083.2:c.1352A>C	NP_000074.2:p.His451Pro
NR_046453.1:n.1341+321A>C
XM_011515781.1:c.1376A>C	XP_011514083.1:p.His459Pro
XM_011515782.1:c.98A>C	XP_011514084.1:p.His33Pro
XM_011515782.2:c.98A>C	XP_011514084.1:p.His33Pro
XM_017011739.1:c.926A>C	XP_016867228.1:p.His309Pro
XM_017011740.1:c.902A>C	XP_016867229.1:p.His301Pro
NM_000083.3:c.1352A>C MANE Select	NP_000074.3:p.His451Pro
NR_046453.2:n.1356+321A>C