Canonical Allele Identifier: CA369646698

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143039189G>C (hg19) ; chr7:g.143342096G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342096G>C , CM000669.2:g.143342096G>C	GRCh38
NC_000007.13:g.143039189G>C , CM000669.1:g.143039189G>C	GRCh37
NC_000007.12:g.142749311G>C	NCBI36
NG_009815.1:g.30971G>C
NG_009815.2:g.30971G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1750G>C	ENSP00000498052.2:p.Val584Leu
ENST00000343257.7:c.1750G>C MANE Select	ENSP00000339867.2:p.Val584Leu
ENST00000432192.6:c.1574G>C
ENST00000343257.6:c.1750G>C	ENSP00000339867.2:p.Val584Leu
NM_000083.2:c.1750G>C	NP_000074.2:p.Val584Leu
NR_046453.1:n.1690G>C
XM_011515781.1:c.1774G>C	XP_011514083.1:p.Val592Leu
XM_011515782.1:c.496G>C	XP_011514084.1:p.Val166Leu
XM_011515782.2:c.496G>C	XP_011514084.1:p.Val166Leu
XM_017011739.1:c.1324G>C	XP_016867228.1:p.Val442Leu
XM_017011740.1:c.1300G>C	XP_016867229.1:p.Val434Leu
NM_000083.3:c.1750G>C MANE Select	NP_000074.3:p.Val584Leu
NR_046453.2:n.1705G>C