Canonical Allele Identifier: CA362377101

Gene: B4GALT7

Linked Data

• gnomAD v4: 5-177609014-G-T
• MyVariant Identifiers: chr5:g.177036015G>T (hg19) ; chr5:g.177609014G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177609014G>T , CM000667.2:g.177609014G>T	GRCh38
NC_000005.9:g.177036015G>T , CM000667.1:g.177036015G>T	GRCh37
NC_000005.8:g.176968621G>T	NCBI36
NG_015977.1:g.13897G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.828G>T MANE Select	ENSP00000029410.5:p.Gln276His
ENST00000029410.9:c.828G>T	ENSP00000029410.5:p.Gln276His
ENST00000505145.1:n.1926G>T
ENST00000505433.5:c.*334G>T	ENSP00000425591.1:n.*334G>T
ENST00000515353.1:n.1650G>T
NM_007255.2:c.828G>T	NP_009186.1:p.Gln276His
XM_005265805.2:c.486G>T	XP_005265862.1:p.Gln162His
XM_006714816.2:c.348G>T	XP_006714879.1:p.Gln116His
XM_011534421.1:c.486G>T	XP_011532723.1:p.Gln162His
XM_006714816.4:c.348G>T	XP_006714879.1:p.Gln116His
XM_017008999.2:c.486G>T	XP_016864488.1:p.Gln162His
NM_007255.3:c.828G>T MANE Select	NP_009186.1:p.Gln276His