Canonical Allele Identifier: CA564519529

Gene: B4GALT7

Linked Data

• dbSNP Id: rs1266702111
• gnomAD v2: 5-177036028-C-T
• gnomAD v3: 5-177609027-C-T
• gnomAD v4: 5-177609027-C-T
• MyVariant Identifiers: chr5:g.177036028C>T (hg19) ; chr5:g.177609027C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177609027C>T , CM000667.2:g.177609027C>T	GRCh38
NC_000005.9:g.177036028C>T , CM000667.1:g.177036028C>T	GRCh37
NC_000005.8:g.176968634C>T	NCBI36
NG_015977.1:g.13910C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000029410.10:c.828+13C>T MANE Select	ENSP00000029410.5:n.828+13C>T
ENST00000029410.9:c.828+13C>T	ENSP00000029410.5:n.828+13C>T
ENST00000505145.1:n.1926+13C>T
ENST00000505433.5:c.*334+13C>T	ENSP00000425591.1:n.*334+13C>T
ENST00000515353.1:n.1650+13C>T
NM_007255.2:c.828+13C>T	NP_009186.1:n.828+13C>T
XM_005265805.2:c.486+13C>T	XP_005265862.1:n.486+13C>T
XM_006714816.2:c.348+13C>T	XP_006714879.1:n.348+13C>T
XM_011534421.1:c.486+13C>T	XP_011532723.1:n.486+13C>T
XM_006714816.4:c.348+13C>T	XP_006714879.1:n.348+13C>T
XM_017008999.2:c.486+13C>T	XP_016864488.1:n.486+13C>T
NM_007255.3:c.828+13C>T MANE Select	NP_009186.1:n.828+13C>T