Canonical Allele Identifier: CA369653705

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143048825G>C (hg19) ; chr7:g.143351732G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351732G>C , CM000669.2:g.143351732G>C	GRCh38
NC_000007.13:g.143048825G>C , CM000669.1:g.143048825G>C	GRCh37
NC_000007.12:g.142758947G>C	NCBI36
NG_009815.1:g.40607G>C
NG_009815.2:g.40607G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2734G>C	ENSP00000498052.2:p.Asp912His
ENST00000343257.7:c.2734G>C MANE Select	ENSP00000339867.2:p.Asp912His
ENST00000432192.6:c.2558G>C
ENST00000343257.6:c.2734G>C	ENSP00000339867.2:p.Asp912His
NM_000083.2:c.2734G>C	NP_000074.2:p.Asp912His
NR_046453.1:n.2674G>C
XM_011515781.1:c.2758G>C	XP_011514083.1:p.Asp920His
XM_011515782.1:c.1480G>C	XP_011514084.1:p.Asp494His
XM_011515782.2:c.1480G>C	XP_011514084.1:p.Asp494His
XM_017011739.1:c.2308G>C	XP_016867228.1:p.Asp770His
XM_017011740.1:c.2284G>C	XP_016867229.1:p.Asp762His
NM_000083.3:c.2734G>C MANE Select	NP_000074.3:p.Asp912His
NR_046453.2:n.2689G>C