Canonical Allele Identifier: CA497955262

Gene: HES7

Linked Data

• gnomAD v4: 17-8121949-C-G
• MyVariant Identifiers: chr17:g.8025267C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121949C>G , CM000679.2:g.8121949C>G	GRCh38
NC_000017.10:g.8025267C>G , CM000679.1:g.8025267C>G	GRCh37
NC_000017.9:g.7965992C>G	NCBI36
NG_015807.1:g.1968G>C
NG_015816.1:g.7144G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.315G>C MANE Select	ENSP00000446205.2:p.Leu105=
ENST00000317814.8:c.300G>C	ENSP00000314774.4:p.Leu100=
ENST00000541682.6:c.315G>C	ENSP00000446205.2:p.Leu105=
ENST00000577735.1:c.291G>C	ENSP00000462491.1:p.Leu97=
NM_001165967.1:c.315G>C	NP_001159439.1:p.Leu105=
NM_032580.3:c.300G>C	NP_115969.2:p.Leu100=
XM_011524038.1:c.420G>C	XP_011522340.1:p.Leu140=
XM_011524039.1:c.411G>C	XP_011522341.1:p.Leu137=
XM_011524040.1:c.411G>C	XP_011522342.1:p.Leu137=
XM_011524041.1:c.402G>C	XP_011522343.1:p.Leu134=
XM_011524042.1:c.273G>C	XP_011522344.1:p.Leu91=
XR_934203.1:n.69+2135C>G
XM_017025232.1:c.420G>C	XP_016880721.1:p.Leu140=
XM_024451007.1:c.420G>C	XP_024306775.1:p.Leu140=
NM_001165967.2:c.315G>C MANE Select	NP_001159439.1:p.Leu105=
NM_032580.4:c.300G>C	NP_115969.2:p.Leu100=