Canonical Allele Identifier: CA369646414

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143039058T>C (hg19) ; chr7:g.143341965T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341965T>C , CM000669.2:g.143341965T>C	GRCh38
NC_000007.13:g.143039058T>C , CM000669.1:g.143039058T>C	GRCh37
NC_000007.12:g.142749180T>C	NCBI36
NG_009815.1:g.30840T>C
NG_009815.2:g.30840T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1619T>C	ENSP00000498052.2:p.Val540Ala
ENST00000343257.7:c.1619T>C MANE Select	ENSP00000339867.2:p.Val540Ala
ENST00000432192.6:c.1443T>C
ENST00000343257.6:c.1619T>C	ENSP00000339867.2:p.Val540Ala
NM_000083.2:c.1619T>C	NP_000074.2:p.Val540Ala
NR_046453.1:n.1559T>C
XM_011515781.1:c.1643T>C	XP_011514083.1:p.Val548Ala
XM_011515782.1:c.365T>C	XP_011514084.1:p.Val122Ala
XM_011515782.2:c.365T>C	XP_011514084.1:p.Val122Ala
XM_017011739.1:c.1193T>C	XP_016867228.1:p.Val398Ala
XM_017011740.1:c.1169T>C	XP_016867229.1:p.Val390Ala
NM_000083.3:c.1619T>C MANE Select	NP_000074.3:p.Val540Ala
NR_046453.2:n.1574T>C