Canonical Allele Identifier: CA362377062

Gene: B4GALT7

Linked Data

• gnomAD v4: 5-177609008-A-C
• MyVariant Identifiers: chr5:g.177036009A>C (hg19) ; chr5:g.177609008A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177609008A>C , CM000667.2:g.177609008A>C	GRCh38
NC_000005.9:g.177036009A>C , CM000667.1:g.177036009A>C	GRCh37
NC_000005.8:g.176968615A>C	NCBI36
NG_015977.1:g.13891A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.822A>C MANE Select	ENSP00000029410.5:p.Gln274His
ENST00000029410.9:c.822A>C	ENSP00000029410.5:p.Gln274His
ENST00000505145.1:n.1920A>C
ENST00000505433.5:c.*328A>C	ENSP00000425591.1:n.*328A>C
ENST00000515353.1:n.1644A>C
NM_007255.2:c.822A>C	NP_009186.1:p.Gln274His
XM_005265805.2:c.480A>C	XP_005265862.1:p.Gln160His
XM_006714816.2:c.342A>C	XP_006714879.1:p.Gln114His
XM_011534421.1:c.480A>C	XP_011532723.1:p.Gln160His
XM_006714816.4:c.342A>C	XP_006714879.1:p.Gln114His
XM_017008999.2:c.480A>C	XP_016864488.1:p.Gln160His
NM_007255.3:c.822A>C MANE Select	NP_009186.1:p.Gln274His