Canonical Allele Identifier: CA362373005

Gene: B4GALT7

Linked Data

• ClinVar Variation Id: 1977421
• ClinVar RCV Id: RCV003891390
• dbSNP Id: rs1767918464
• gnomAD v3: 5-177604298-T-C
• gnomAD v4: 5-177604298-T-C
• MyVariant Identifiers: chr5:g.177031299T>C (hg19) ; chr5:g.177604298T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177604298T>C , CM000667.2:g.177604298T>C	GRCh38
NC_000005.9:g.177031299T>C , CM000667.1:g.177031299T>C	GRCh37
NC_000005.8:g.176963905T>C	NCBI36
NG_015977.1:g.9181T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000029410.10:c.170T>C MANE Select	ENSP00000029410.5:p.Val57Ala
ENST00000029410.9:c.170T>C	ENSP00000029410.5:p.Val57Ala
ENST00000502420.1:n.149T>C
ENST00000505433.5:c.170T>C	ENSP00000425591.1:p.Val57Ala
ENST00000505468.1:c.-173T>C	ENSP00000420886.1:n.-173T>C
ENST00000510761.1:c.-173T>C	ENSP00000423438.1:n.-173T>C
NM_007255.2:c.170T>C	NP_009186.1:p.Val57Ala
XM_005265805.2:c.-173T>C	XP_005265862.1:n.-173T>C
XM_006714816.2:c.-330T>C	XP_006714879.1:n.-330T>C
XM_011534421.1:c.-173T>C	XP_011532723.1:n.-173T>C
XM_006714816.4:c.-330T>C	XP_006714879.1:n.-330T>C
XM_017008999.2:c.-173T>C	XP_016864488.1:n.-173T>C
NM_007255.3:c.170T>C MANE Select	NP_009186.1:p.Val57Ala