Canonical Allele Identifier: CA358066015

Gene: BBS7

Linked Data

• MyVariant Identifiers: chr4:g.122775931G>A (hg19) ; chr4:g.121854776G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.121854776G>A , CM000666.2:g.121854776G>A	GRCh38
NC_000004.11:g.122775931G>A , CM000666.1:g.122775931G>A	GRCh37
NC_000004.10:g.122995381G>A	NCBI36
NG_009111.1:g.20712C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264499.9:c.646C>T MANE Select	ENSP00000264499.4:p.Leu216Phe
ENST00000264499.8:c.646C>T	ENSP00000264499.4:p.Leu216Phe
ENST00000506636.1:c.646C>T	ENSP00000423626.1:p.Leu216Phe
NM_018190.3:c.646C>T	NP_060660.2:p.Leu216Phe
NM_176824.2:c.646C>T	NP_789794.1:p.Leu216Phe
XM_005263106.2:c.649C>T	XP_005263163.1:p.Leu217Phe
XM_011532079.1:c.694C>T	XP_011530381.1:p.Leu232Phe
XM_011532080.1:c.691C>T	XP_011530382.1:p.Leu231Phe
XM_011532081.1:c.694C>T	XP_011530383.1:p.Leu232Phe
XM_005263106.4:c.649C>T	XP_005263163.1:p.Leu217Phe
XM_011532079.3:c.694C>T	XP_011530381.1:p.Leu232Phe
XM_011532080.3:c.691C>T	XP_011530382.1:p.Leu231Phe
XM_011532081.3:c.694C>T	XP_011530383.1:p.Leu232Phe
XM_017008357.2:c.646C>T	XP_016863846.1:p.Leu216Phe
XM_017008358.2:c.649C>T	XP_016863847.1:p.Leu217Phe
NM_176824.3:c.646C>T MANE Select	NP_789794.1:p.Leu216Phe
NM_018190.4:c.646C>T	NP_060660.2:p.Leu216Phe