Canonical Allele Identifier: CA369653748

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143048846A>T (hg19) ; chr7:g.143351753A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351753A>T , CM000669.2:g.143351753A>T	GRCh38
NC_000007.13:g.143048846A>T , CM000669.1:g.143048846A>T	GRCh37
NC_000007.12:g.142758968A>T	NCBI36
NG_009815.1:g.40628A>T
NG_009815.2:g.40628A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2755A>T	ENSP00000498052.2:p.Thr919Ser
ENST00000343257.7:c.2755A>T MANE Select	ENSP00000339867.2:p.Thr919Ser
ENST00000343257.6:c.2755A>T	ENSP00000339867.2:p.Thr919Ser
NM_000083.2:c.2755A>T	NP_000074.2:p.Thr919Ser
NR_046453.1:n.2695A>T
XM_011515781.1:c.2779A>T	XP_011514083.1:p.Thr927Ser
XM_011515782.1:c.1501A>T	XP_011514084.1:p.Thr501Ser
XM_011515782.2:c.1501A>T	XP_011514084.1:p.Thr501Ser
XM_017011739.1:c.2329A>T	XP_016867228.1:p.Thr777Ser
XM_017011740.1:c.2305A>T	XP_016867229.1:p.Thr769Ser
NM_000083.3:c.2755A>T MANE Select	NP_000074.3:p.Thr919Ser
NR_046453.2:n.2710A>T