Canonical Allele Identifier: CA362373597

Gene: B4GALT7

Linked Data

• ClinVar Variation Id: 1421902
• ClinVar RCV Id: RCV003891317
• dbSNP Id: rs778409854
• gnomAD v4: 5-177604403-C-T
• MyVariant Identifiers: chr5:g.177031404C>T (hg19) ; chr5:g.177604403C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177604403C>T , CM000667.2:g.177604403C>T	GRCh38
NC_000005.9:g.177031404C>T , CM000667.1:g.177031404C>T	GRCh37
NC_000005.8:g.176964010C>T	NCBI36
NG_015977.1:g.9286C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000029410.10:c.275C>T MANE Select	ENSP00000029410.5:p.Pro92Leu
ENST00000029410.9:c.275C>T	ENSP00000029410.5:p.Pro92Leu
ENST00000502420.1:n.254C>T
ENST00000505433.5:c.275C>T	ENSP00000425591.1:p.Pro92Leu
ENST00000505468.1:c.-68C>T	ENSP00000420886.1:n.-68C>T
ENST00000507061.1:c.92C>T	ENSP00000423868.1:p.Pro31Leu
ENST00000510761.1:c.-68C>T	ENSP00000423438.1:n.-68C>T
NM_007255.2:c.275C>T	NP_009186.1:p.Pro92Leu
XM_005265805.2:c.-68C>T	XP_005265862.1:n.-68C>T
XM_006714816.2:c.-225C>T	XP_006714879.1:n.-225C>T
XM_011534421.1:c.-68C>T	XP_011532723.1:n.-68C>T
XM_006714816.4:c.-225C>T	XP_006714879.1:n.-225C>T
XM_017008999.2:c.-68C>T	XP_016864488.1:n.-68C>T
NM_007255.3:c.275C>T MANE Select	NP_009186.1:p.Pro92Leu