Canonical Allele Identifier: CA362377021

Gene: B4GALT7

Linked Data

• gnomAD v4: 5-177608999-C-G
• MyVariant Identifiers: chr5:g.177036000C>G (hg19) ; chr5:g.177608999C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177608999C>G , CM000667.2:g.177608999C>G	GRCh38
NC_000005.9:g.177036000C>G , CM000667.1:g.177036000C>G	GRCh37
NC_000005.8:g.176968606C>G	NCBI36
NG_015977.1:g.13882C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.813C>G MANE Select	ENSP00000029410.5:p.Ile271Met
ENST00000029410.9:c.813C>G	ENSP00000029410.5:p.Ile271Met
ENST00000505145.1:n.1911C>G
ENST00000505433.5:c.*319C>G	ENSP00000425591.1:n.*319C>G
ENST00000515353.1:n.1635C>G
NM_007255.2:c.813C>G	NP_009186.1:p.Ile271Met
XM_005265805.2:c.471C>G	XP_005265862.1:p.Ile157Met
XM_006714816.2:c.333C>G	XP_006714879.1:p.Ile111Met
XM_011534421.1:c.471C>G	XP_011532723.1:p.Ile157Met
XM_006714816.4:c.333C>G	XP_006714879.1:p.Ile111Met
XM_017008999.2:c.471C>G	XP_016864488.1:p.Ile157Met
NM_007255.3:c.813C>G MANE Select	NP_009186.1:p.Ile271Met