Canonical Allele Identifier: CA371309472

Gene: CHD7

Linked Data

• MyVariant Identifiers: chr8:g.61777945T>C (hg19) ; chr8:g.60865386T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865386T>C , CM000670.2:g.60865386T>C	GRCh38
NC_000008.10:g.61777945T>C , CM000670.1:g.61777945T>C	GRCh37
NC_000008.9:g.61940499T>C	NCBI36
NG_007009.1:g.191607T>C , LRG_176:g.191607T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000695850.1:n.1623T>C
ENST00000695852.1:n.554T>C
ENST00000695853.1:c.*1506T>C	ENSP00000512218.1:n.*1506T>C
ENST00000423902.7:c.8447T>C MANE Select	ENSP00000392028.1:p.Leu2816Ser
ENST00000423902.6:c.8447T>C	ENSP00000392028.1:p.Leu2816Ser
ENST00000524602.5:c.2300T>C	ENSP00000437061.1:p.Leu767Ser
ENST00000528280.1:n.493T>C
NM_001316690.1:c.2300T>C	NP_001303619.1:p.Leu767Ser
NM_017780.3:c.8447T>C	NP_060250.2:p.Leu2816Ser
XM_011517553.1:c.8537T>C	XP_011515855.1:p.Leu2846Ser
XM_011517554.1:c.8537T>C	XP_011515856.1:p.Leu2846Ser
XM_011517555.1:c.8534T>C	XP_011515857.1:p.Leu2845Ser
XM_011517556.1:c.8315T>C	XP_011515858.1:p.Leu2772Ser
XM_011517557.1:c.6524T>C	XP_011515859.1:p.Leu2175Ser
XM_011517558.1:c.6074T>C	XP_011515860.1:p.Leu2025Ser
XM_011517559.1:c.5282T>C	XP_011515861.1:p.Leu1761Ser
XM_011517553.2:c.8537T>C	XP_011515855.1:p.Leu2846Ser
XM_011517554.3:c.8537T>C	XP_011515856.1:p.Leu2846Ser
XM_011517555.2:c.8534T>C	XP_011515857.1:p.Leu2845Ser
XM_017013612.1:c.8537T>C	XP_016869101.1:p.Leu2846Ser
XM_017013613.1:c.8444T>C	XP_016869102.1:p.Leu2815Ser
NM_017780.4:c.8447T>C MANE Select	NP_060250.2:p.Leu2816Ser